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Volume 8(1); January 2015
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Review Article
Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management
Penelope Hogarth
J Mov Disord. 2015;8(1):1-13.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14034
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  • 107 Citations
AbstractAbstract PDF
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron deposition in the basal ganglia. The genetic basis of ten forms of NBIA is now known. The clinical features of NBIA range from rapid global neurodevelopmental regression in infancy to mild parkinsonism with minimal cognitive impairment in adulthood, with wide variation seen between and within the specific NBIA sub-type. This review describes the clinical presentations, imaging findings, pathologic features, and treatment considerations for this heterogeneous group of disorders.

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  • Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran
    Reza Hajati, Maziar Emamikhah, Fardad Danaee Fard, Mohammad Rohani, Afagh Alavi
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2022; 49(3): 338.     CrossRef
  • A Practical Approach to Early-Onset Parkinsonism
    Giulietta M. Riboldi, Emanuele Frattini, Edoardo Monfrini, Steven J. Frucht, Alessio Di Fonzo
    Journal of Parkinson's Disease.2022; 12(1): 1.     CrossRef
  • Parkinsonism and tremor syndromes
    Steven Bellows, Joseph Jankovic
    Journal of the Neurological Sciences.2022; 433: 120018.     CrossRef
  • Aceruloplasminemia: MRI and Biochemical Profile Clue to Early Diagnosis in an Adolescent
    Swapnil Sheth, Seema Sud, Tarvinder B. S. Buxi, Salil Bhargava, Ratna Dua Puri, Sapna Sandal, C.S. Agrawal
    Journal of Pediatric Neurology.2022; 20(02): 133.     CrossRef
  • Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases
    Hana Kolarova, Jing Tan, Tim M. Strom, Thomas Meitinger, Matias Wagner, Thomas Klopstock
    eBioMedicine.2022; 77: 103869.     CrossRef
  • Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up
    Sevcan Mercan, Sibel Aylin Ugur Iseri, Remzi Yigiter, Nihan Hande Akcakaya, Esen Saka, Zuhal Yapici
    Neurocase.2022; 28(1): 37.     CrossRef
  • CHARACTERISTIC UPPER LIMB DYSTONIA PATTERN AS A CORRELATE TO THE 'EYE OF TIGER' MRI SIGN.
    Akash Chheda, Dnyaneshwar V Jadhav, Sangeeta Ravat
    GLOBAL JOURNAL FOR RESEARCH ANALYSIS.2022; : 28.     CrossRef
  • A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
    I-Ting Lin, Ni-Chung Lee, Sung-Pin Fan, Chang-Jin Huang, PoWei Cheng, Jyh-Horng Chen, Chin-Hsien Lin
    Parkinsonism & Related Disorders.2022; 98: 114.     CrossRef
  • A Case of MPAN with “Eye of the Tiger Sign,” Mimicking PKAN
    Masoumeh Dehghan Manshadi, Mohammd Rohani, Ali Rezaei, Omid Aryani
    Movement Disorders Clinical Practice.2022; 9(5): 693.     CrossRef
  • Spinal cord stimulation for freezing of gait in Parkinson's disease and progressive supranuclear palsy: a case series
    Vladislav V. Kovalev, Ekaterina V. Bril, Maksim S. Semenov, Yury A. Seliverstov, Levan T. Lepsveridze
    Almanac of Clinical Medicine.2022;[Epub]     CrossRef
  • Early Neuroimaging Markers in β Propeller Protein-Associated Neurodegeneration
    L. Chiapparini, G. Zorzi
    American Journal of Neuroradiology.2022;[Epub]     CrossRef
  • Missing heritability of Wilson disease: a search for the uncharacterized mutations
    Shubhrajit Roy, Sampurna Ghosh, Jharna Ray, Kunal Ray, Mainak Sengupta
    Mammalian Genome.2022;[Epub]     CrossRef
  • Deletion of ferritin H in neurons counteracts the protective effect of melatonin against traumatic brain injury‐induced ferroptosis
    Tongyu Rui, Haochen Wang, Qianqian Li, Ying Cheng, Yuan Gao, Xuexian Fang, Xuying Ma, Guang Chen, Cheng Gao, Zhiya Gu, Shunchen Song, Jian Zhang, Chunling Wang, Zufeng Wang, Tao Wang, Mingyang Zhang, Junxia Min, Xiping Chen, Luyang Tao, Fudi Wang, Chengli
    Journal of Pineal Research.2021;[Epub]     CrossRef
  • Correlation of dystonia severity and iron accumulation in Rett syndrome
    Tz-Yun Jan, Lee-Chin Wong, Ming-Tao Yang, Chien-Feng Judith Huang, Chia-Jui Hsu, Steven Shinn-Forng Peng, Wen-Yih Isaac Tseng, Wang-Tso Lee
    Scientific Reports.2021;[Epub]     CrossRef
  • The Case of a Patient with Pantothenate Kinase-Associated Neurodegeneration Presenting with a Prolonged History of Stuttering Speech and a Misdiagnosis of Parkinson’s Disease
    Prashant A Natteru, Juebin Huang
    Journal of Movement Disorders.2021; 14(1): 86.     CrossRef
  • Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia
    Peter Sparber, Tatiana Krylova, Svetlana Repina, Nina Demina, Galina Rudenskaya, Inna Sharkova, Artem Sharkov, Vitaly Kadyshev, Ilya Kanivets, Sergey Korostelev, Ekaterina Pomerantseva, Vladimir Kaimonov, Svetlana Mikhailova, Ekaterina Zakharova, Mikhail
    Parkinsonism & Related Disorders.2021; 84: 98.     CrossRef
  • Arching deep brain stimulation in dystonia types
    Han-Joon Kim, Beomseok Jeon
    Journal of Neural Transmission.2021; 128(4): 539.     CrossRef
  • WDR45 Gene and Its Role in Pediatric Epilepsies
    Federica Filosco, Sebastiano Billone, Ausilia Collotta, Tiziana Timpanaro, Monica Tosto, Raffaele Falsaperla, Silvia Marino, Antonio Zanghì, Andrea D. Praticò
    Journal of Pediatric Neurology.2021;[Epub]     CrossRef
  • Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
    Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India
    Naveen Kumar Bhardwaj, Vykuntaraju K. Gowda, Jitendra Saini, Ashwin Vivek Sardesai, Rashmi Santhoshkumar, Anita Mahadevan
    Brain and Development.2021; 43(10): 1013.     CrossRef
  • Autophagic defects observed in fibroblasts from a patient with β‐propeller protein‐associated neurodegeneration
    Jae‐Hyeok Lee, Sang Ook Nam, Eun Kyoung Kim, Jin‐Hong Shin, Seung Hwan Oh, Dongryeol Ryu, Hye Eun Lee, Ji Young Mun
    American Journal of Medical Genetics Part A.2021; 185(12): 3866.     CrossRef
  • Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
    Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J Hayflick, Caleb Rogers, Jae‐Hyeok Lee, Kimberly Burke, Meg Tally Dyer, Donna Stretter
    Developmental Medicine & Child Neurology.2021; 63(12): 1402.     CrossRef
  • Findings of Magnetic Resonance and Dopamine Transporter Imaging in Beta-Propeller Protein-Associated Neurodegeneration
    Seong Ho Jeong
    Journal of the Korean Neurological Association.2021; 39(3): 239.     CrossRef
  • An Eye on Movement Disorders
    Duncan Wilson, Mark Hallett, Tim Anderson
    Movement Disorders Clinical Practice.2021; 8(8): 1168.     CrossRef
  • Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
    Robert V.V. Spaull, Audrey K.S. Soo, Penelope Hogarth, Susan J. Hayflick, Manju A. Kurian
    Tremor and Other Hyperkinetic Movements.2021;[Epub]     CrossRef
  • Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation
    Antonia Lefter, Iulia Mitrea, Dan Mitrea, Vasilica Plaiasu, Aida Bertoli-Avella, Christian Beetz, Liviu Cozma, Delia Tulbă, Cristina Elena Mitu, Bogdan Ovidiu Popescu
    Neurocase.2021; 27(6): 481.     CrossRef
  • Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient
    Stephanie Christoforou, Kyproula Christodoulou, Violetta Anastasiadou, Paola Nicolaides
    European Journal of Medical Genetics.2020; 63(3): 103765.     CrossRef
  • A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration
    Stephanie Efthymiou, Yamna Kriouile, Vincenzo Salpietro, Rhouda Hajar, Zouiri Ghizlane, Kshitij Mankad, Mohamed El Khorassani, Mhammed Aguennouz, Henry Houlden, Sarah Wiethoff
    Journal of the Neurological Sciences.2020; 410: 116639.     CrossRef
  • Chemical Chaperones as Novel Drugs for Parkinson’s Disease
    Jordi Pujols, Samuel Peña-Díaz, Irantzu Pallarès, Salvador Ventura
    Trends in Molecular Medicine.2020; 26(4): 408.     CrossRef
  • A case of novel WDR45 mutation with beta-propeller protein-associated neurodegeneration (BPAN) presenting asymmetrical extrapyramidal signs
    Ryota Sato, Michiaki Koga, Kazuhiro Iwama, Tsuyoshi Mizuguchi, Naomichi Matsumoto, Takashi Kanda
    Rinsho Shinkeigaku.2020; 60(5): 317.     CrossRef
  • Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature
    Si Pan, Chenkai Zhu
    Neurocase.2020; 26(3): 175.     CrossRef
  • The roles of iron and HFE genotype in neurological diseases
    Yunsung Kim, James R. Connor
    Molecular Aspects of Medicine.2020; 75: 100867.     CrossRef
  • L'acéruléoplasminémie héréditaire, une pathologie à ne pas méconnaître
    H. Lobbes, Q. Reynaud, S. Mainbourg, J-C. Lega, I. Durieu, S. Durupt
    La Revue de Médecine Interne.2020; 41(11): 769.     CrossRef
  • Atypical brain MRI in neurological Wilson disease
    Jong Hyeon Ahn, Joomee Song, Inyoung Choi, Ji Sun Kim, Jin Whan Cho, Jinyoung Youn
    Parkinsonism & Related Disorders.2020; 78: 70.     CrossRef
  • Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration
    Anezka Belohlavkova, Katalin Sterbova, Cornelia Betzler, Stuve Burkhard, Axel Panzer, Markus Wolf, Petra Lassuthova, Marketa Vlckova, Martin Kyncl, Barbora Benova, Alena Jahodova, Martin Kudr, Maria Goerg, Petr Dusek, Pavel Seeman, Gerhard Kluger, Pavel K
    European Journal of Paediatric Neurology.2020;[Epub]     CrossRef
  • Loss of tyrosine hydroxylase, motor deficits and elevated iron in a mouse model of phospholipase A2G6-associated neurodegeneration (PLAN)
    Michael Minkley, Patrick MacLeod, Christopher K. Anderson, Raad Nashmi, Patrick B. Walter
    Brain Research.2020; 1748: 147066.     CrossRef
  • Nanotechnology-based Targeting of Neurodegenerative Disorders: A Promising Tool for Efficient Delivery of Neuromedicines
    Kuldeep Rajpoot
    Current Drug Targets.2020; 21(8): 819.     CrossRef
  • Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
    Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • Molecular Defects in Friedreich’s Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities
    Frances M. Smith, Daniel J. Kosman
    Frontiers in Molecular Biosciences.2020;[Epub]     CrossRef
  • Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children
    Justyna Paprocka, Magdalena Machnikowska-Sokołowska, Katarzyna Gruszczyńska, Ewa Emich-Widera
    Brain Sciences.2020; 10(11): 849.     CrossRef
  • Eye of tiger sign in patient with extrapyramidal syndrome - unique case report
    Martin Daniš, Juraj Cisár, Georgi Krastev
    Neurologie pro praxi.2020; 21(4): 319.     CrossRef
  • Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants
    Hongbo Chen, Yanyan Qian, Sha Yu, Deyong Xiao, Xiao Guo, Qing Wang, Lili Hao, Kai Yan, Yulan Lu, Xinran Dong, Wenhao Zhou, Bingbing Wu, Shuizhen Zhou, Huijun Wang
    European Journal of Medical Genetics.2019; 62(2): 149.     CrossRef
  • A new NBIA patient from Turkey with homozygous C19ORF12 mutation
    Çiğdem Seher Kasapkara, Leyla Tümer, Allison Gregory, Fatih Ezgü, Aslı İnci, Betül Emine Derinkuyu, Rachel Fox, Caleb Rogers, Susan Hayflick
    Acta Neurologica Belgica.2019; 119(4): 623.     CrossRef
  • Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration
    Camilla Russo, Anna Ardissone, Elena Freri, Serena Gasperini, Marco Moscatelli, Giovanna Zorzi, Celeste Panteghini, Barbara Castellotti, Barbara Garavaglia, Nardo Nardocci, Luisa Chiapparini
    Movement Disorders Clinical Practice.2019; 6(1): 51.     CrossRef
  • A Golgi-targeting fluorescent probe for labile Fe(ii) to reveal an abnormal cellular iron distribution induced by dysfunction of VPS35
    Tasuku Hirayama, Masatoshi Inden, Hitomi Tsuboi, Masato Niwa, Yasuhiro Uchida, Yuki Naka, Isao Hozumi, Hideko Nagasawa
    Chemical Science.2019; 10(5): 1514.     CrossRef
  • Iron in Neurodegeneration – Cause or Consequence?
    Alain Ndayisaba, Christine Kaindlstorfer, Gregor K. Wenning
    Frontiers in Neuroscience.2019;[Epub]     CrossRef
  • Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis
    Giacomo Marchi, Fabiana Busti, Acaynne Lira Zidanes, Annalisa Castagna, Domenico Girelli
    Frontiers in Neuroscience.2019;[Epub]     CrossRef
  • FAHN/SPG35: a narrow phenotypic spectrum across disease classifications
    Tim W Rattay, Tobias Lindig, Jonathan Baets, Katrien Smets, Tine Deconinck, Anne S Söhn, Konstanze Hörtnagel, Kathrin N Eckstein, Sarah Wiethoff, Jennifer Reichbauer, Marion Döbler-Neumann, Ingeborg Krägeloh-Mann, Michaela Auer-Grumbach, Barbara Plecko, A
    Brain.2019; 142(6): 1561.     CrossRef
  • Juvenile parkinsonism: Differential diagnosis, genetics, and treatment
    Nicki Niemann, Joseph Jankovic
    Parkinsonism & Related Disorders.2019; 67: 74.     CrossRef
  • Woodhouse–Sakati Syndrome: First report of a Portuguese case
    Pedro Louro, João Durães, Diana Oliveira, Sandra Paiva, Lina Ramos, Maria Carmo Macário
    American Journal of Medical Genetics Part A.2019; 179(11): 2237.     CrossRef
  • Patterns of neurological manifestations in Woodhouse-Sakati Syndrome
    Saeed Bohlega, Ali H. Abusrair, Fahad S. Al-Ajlan, Norah Alharbi, Abdulaziz Al-Semari, Balsam Bohlega, Dalya Abualsaud, Fowzan Alkuraya
    Parkinsonism & Related Disorders.2019; 69: 99.     CrossRef
  • Clinical case of a rare neurodegenerative disease with iron accumulation in the brain, type 4, in a 15-year-old child
    I. F. Fedoseeva, T. V. Poponnikova, G. Yu. Galieva, S. V. Moschnegootz
    Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics).2019; 64(5): 109.     CrossRef
  • Levodopa-induced dyskinesias in mitochondrial membrane protein–associated neurodegeneration
    Daniel Savitt, Joseph Jankovic
    Neurology: Clinical Practice.2019; 9(1): e7.     CrossRef
  • On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
    C. Tello, A. Darling, V. Lupo, B. Pérez-Dueñas, C. Espinós
    Clinical Genetics.2018; 93(4): 731.     CrossRef
  • Les mouvements anormaux : mise au point
    M. Béreau, C. Tranchant
    La Revue de Médecine Interne.2018; 39(8): 641.     CrossRef
  • Ferrosenescence: The iron age of neurodegeneration?
    Adonis Sfera, Kelsey Bullock, Amy Price, Luzmin Inderias, Carolina Osorio
    Mechanisms of Ageing and Development.2018; 174: 63.     CrossRef
  • Chemodosimeters and chemoreactands for sensing ferric ions
    Karl J. Wallace, Ashley D. G. Johnson, W. Scott Jones, Erendra Manandhar
    Supramolecular Chemistry.2018; 30(5-6): 353.     CrossRef
  • Beta-propeller protein-associated neurodegeneration: a case report and review of the literature
    Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis
    Clinical Case Reports.2018; 6(2): 353.     CrossRef
  • Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase–Associated Neurodegeneration
    J.-H. Lee, A. Gregory, P. Hogarth, C. Rogers, S.J. Hayflick
    American Journal of Neuroradiology.2018; 39(3): 583.     CrossRef
  • Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration
    Yi-Jun Chen, Yu-Chao Chen, Hai-Lin Dong, Li-Xi Li, Wang Ni, Hong-Fu Li, Zhi-Ying Wu
    Parkinsonism & Related Disorders.2018;[Epub]     CrossRef
  • Expanding the phenotype of SLC25A42 -associated mitochondrial encephalomyopathy
    M. Almannai, A. Alasmari, A. Alqasmi, E. Faqeih, F. Al Mutairi, M. Alotaibi, M.M. Samman, W. Eyaid, Y.I. Aljadhai, H.E. Shamseldin, W. Craigen, F.S. Alkuraya
    Clinical Genetics.2018; 93(5): 1097.     CrossRef
  • Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration
    Xulai Shi, Feixia Zheng, Xiuyun Ye, Xiucui Li, Qianlei Zhao, Zhongdong Lin, Ying Hu, Jiwen Wang
    Medicine.2018; 97(15): e0316.     CrossRef
  • Botulinum toxin injection to improve functional independence and to alleviate parenting stress in a child with advanced pantothenate kinase-associated neurodegeneration
    Cho-I Lin, Kuan-Lin Chen, Ta-Shen Kuan, Sheng-Han Lin, Wei-Pin Lin, Yu-Ching Lin
    Medicine.2018; 97(20): e10709.     CrossRef
  • Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike
    Woong-Woo Lee, Beomseok Jeon, Ryul Kim
    Journal of Korean Medical Science.2018;[Epub]     CrossRef
  • Oxidative stress and neurodegeneration: the involvement of iron
    Alessia Carocci, Alessia Catalano, Maria Stefania Sinicropi, Giuseppe Genchi
    BioMetals.2018; 31(5): 715.     CrossRef
  • Non-cell-autonomous actions of α-synuclein: Implications in glial synucleinopathies
    Somin Lim, Han-Joon Kim, Dong-Kyu Kim, Seung-Jae Lee
    Progress in Neurobiology.2018; 169: 158.     CrossRef
  • Longitudinal study of multiple sclerosis lesions using ultra-high field (7T) multiparametric MR imaging
    Sanjeev Chawla, Ilya Kister, Tim Sinnecker, Jens Wuerfel, Jean-Christophe Brisset, Friedemann Paul, Yulin Ge, Quan Jiang
    PLOS ONE.2018; 13(9): e0202918.     CrossRef
  • Brain MR Imaging Findings in Woodhouse-Sakati Syndrome
    A.H. Abusrair, S. Bohlega, A. Al-Semari, F.S. Al-Ajlan, K. Al-Ahmadi, B. Mohamed, A. AlDakheel
    American Journal of Neuroradiology.2018; 39(12): 2256.     CrossRef
  • The Involvement of Iron in Traumatic Brain Injury and Neurodegenerative Disease
    Maria Daglas, Paul A. Adlard
    Frontiers in Neuroscience.2018;[Epub]     CrossRef
  • Imaging of dentate nucleus pathologies; a pictorial essay
    Kajari Bhattacharya, Hima Pendharkar, Arun K Gupta
    Indian Journal of Radiology and Imaging.2018; 28(02): 152.     CrossRef
  • Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging
    Sen Guo, Liu Yang, Huijie Liu, Wei Chen, Jinchen Li, Ping Yu, Zhong Sheng Sun, Xiang Chen, Jie Du, Tao Cai
    Molecular Neurobiology.2017; 54(6): 4636.     CrossRef
  • Serum Ferritin Levels Are Lower in Children With Tic Disorders Compared with Children Without Tics: A Cross-Sectional Study
    Matan Avrahami, Ran Barzilay, Miki HarGil, Abraham Weizman, Nathan Watemberg
    Journal of Child and Adolescent Psychopharmacology.2017; 27(2): 192.     CrossRef
  • Autres syndromes parkinsoniens
    Christine Tranchant
    La Presse Médicale.2017; 46(2): 210.     CrossRef
  • Ferrous Iron Up-regulation in Fibroblasts of Patients with Beta Propeller Protein-Associated Neurodegeneration (BPAN)
    Rosaria Ingrassia, Maurizio Memo, Barbara Garavaglia
    Frontiers in Genetics.2017;[Epub]     CrossRef
  • Radiological Findings of Two Sisters with Aceruloplasminemia Presenting with Chorea
    H. K. Kim, C. S. Ki, Y. J. Kim, M. S. Lee
    Clinical Neuroradiology.2017; 27(3): 385.     CrossRef
  • Mitochondrial membrane protein-associated neurodegeneration
    Angela Deutschländer, Takuya Konno, Owen A. Ross
    Parkinsonism & Related Disorders.2017; 39: 1.     CrossRef
  • Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy
    Sylvia Redon, Caroline Benech, Sacha Schutz, Aurore Despres, Paul Gueguen, Pauline Le Berre, Cédric Le Marechal, Sylviane Peudenier, Philippe Meriot, Philippe Parent, Claude Ferec
    American Journal of Medical Genetics Part A.2017; 173(5): 1444.     CrossRef
  • Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA)
    Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
    Clinical Neuroradiology.2017; 27(4): 481.     CrossRef
  • Dentate Update: Imaging Features of Entities That Affect the Dentate Nucleus
    K.M. Bond, W. Brinjikji, L.J. Eckel, D.F. Kallmes, R.J. McDonald, C.M. Carr
    American Journal of Neuroradiology.2017; 38(8): 1467.     CrossRef
  • Available treatment options for dystonia
    Isabel Alfradique-Dunham, Joseph Jankovic
    Expert Opinion on Orphan Drugs.2017; 5(9): 707.     CrossRef
  • Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
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    Movement Disorders.2017; 32(11): 1620.     CrossRef
  • iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease
    Charles Arber, Plamena R. Angelova, Sarah Wiethoff, Yugo Tsuchiya, Francesca Mazzacuva, Elisavet Preza, Kailash P. Bhatia, Kevin Mills, Ivan Gout, Andrey Y. Abramov, John Hardy, James A. Duce, Henry Houlden, Selina Wray, Fanis Missirlis
    PLOS ONE.2017; 12(9): e0184104.     CrossRef
  • Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated Neurodegeneration Documented by Dopamine Transporter Positron Emission Tomography Images: A Case Report
    Min Ki Kim, Nan Young Kim, Sangkyoon Hong, Hyeo-Il Ma, Yun Joong Kim
    Journal of Movement Disorders.2017; 10(3): 161.     CrossRef
  • Iron in neurodegenerative disorders: being in the wrong place at the wrong time?
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    Reviews in the Neurosciences.2017; 28(8): 893.     CrossRef
  • Lessons from a pair of siblings with BPAN
    Yuri A Zarate, Julie R Jones, Melanie A Jones, Francisca Millan, Jane Juusola, Annette Vertino-Bell, G Bradley Schaefer, Michael C Kruer
    European Journal of Human Genetics.2016; 24(7): 1080.     CrossRef
  • “Eye of tiger sign” mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN)
    Sangeetha Yoganathan, Sniya Valsa Sudhakar, Maya Thomas, Atanu Kumar Dutta, Sumita Danda
    Brain and Development.2016; 38(5): 516.     CrossRef
  • Gene co-expression networks shed light into diseases of brain iron accumulation
    Conceição Bettencourt, Paola Forabosco, Sarah Wiethoff, Moones Heidari, Daniel M. Johnstone, Juan A. Botía, Joanna F. Collingwood, John Hardy, Elizabeth A. Milward, Mina Ryten, Henry Houlden
    Neurobiology of Disease.2016; 87: 59.     CrossRef
  • Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features
    M Heidari, D M Johnstone, B Bassett, R M Graham, A C G Chua, M J House, J F Collingwood, C Bettencourt, H Houlden, M Ryten, J K Olynyk, D Trinder, E A Milward
    Molecular Psychiatry.2016; 21(11): 1599.     CrossRef
  • WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
    Sabine Hoffjan, Aysegül Ibisler, Anne Tschentscher, Gabriele Dekomien, Carla Bidinost, Alberto L. Rosa
    Molecular and Cellular Probes.2016;[Epub]     CrossRef
  • Missions of <italic>Journal of Movement Disorders</italic>
    Yun Joong Kim
    Journal of Movement Disorders.2016; 9(1): 1.     CrossRef
  • Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
    Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho,
    Journal of Movement Disorders.2016; 9(1): 20.     CrossRef
  • «Et høist mærkeligt Sygdomstilfælde hos flere Sødskende» – en norsk førstegangsbeskrivelse fra 1830?
    Magne Nylenna, Noralv Breivik, Arvid Heiberg, Øivind Larsen
    Tidsskrift for Den norske legeforening.2016; 136(5): 437.     CrossRef
  • Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
    Olfa Hdiji, Emna Turki, Nouha Bouzidi, Imen Bouchhima, Mariem Damak, Saeed Bohlega, Chokri Mhiri
    Journal of Movement Disorders.2016; 9(2): 120.     CrossRef
  • Encefalopatie metaboliche e tossiche non farmacologiche
    P. Codron, C. Verny
    EMC - Neurologia.2016; 16(3): 1.     CrossRef
  • Iron and Non-Iron-Related Characteristics of Multiple Sclerosis and Neuromyelitis Optica Lesions at 7T MRI
    S. Chawla, I. Kister, J. Wuerfel, J.- C. Brisset, S. Liu, T. Sinnecker, P. Dusek, E. M. Haacke, F. Paul, Y. Ge
    American Journal of Neuroradiology.2016; 37(7): 1223.     CrossRef
  • Freezing of gait in Parkinson's disease: from pathophysiology to emerging therapies
    Alberto Cucca, Milton C Biagioni, Jori E Fleisher, Shashank Agarwal, Andre Son, Pawan Kumar, Miroslaw Brys, Alessandro Di Rocco
    Neurodegenerative Disease Management.2016; 6(5): 431.     CrossRef
  • Neurodegeneration with brain iron accumulation
    João Carlos Papaterra Limongi
    Arquivos de Neuro-Psiquiatria.2016; 74(7): 517.     CrossRef
  • Neurodegeneration with brain iron accumulation: A case report
    Daniel Nassif, João Santos Pereira, Mariana Spitz, Cláudia Capitão, Alessandra Faria
    Dementia & Neuropsychologia.2016; 10(2): 160.     CrossRef
  • What’s in a name? Problems, facts and controversies regarding neurological eponyms
    Hélio A. G. Teive, Plínio M. G. Lima, Francisco M. B. Germiniani, Renato P. Munhoz
    Arquivos de Neuro-Psiquiatria.2016; 74(5): 423.     CrossRef
  • A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
    Rubens Paulo Araújo Salomão, José Luiz Pedroso, Maria Thereza Drumond Gama, Lívia Almeida Dutra, Ricardo Horta Maciel, Clécio Godeiro-Junior, Hsin Fen Chien, Hélio A. G. Teive, Francisco Cardoso, Orlando G. P. Barsottini
    Arquivos de Neuro-Psiquiatria.2016; 74(7): 587.     CrossRef
  • Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration
    Yan-Fang Li, Hong-Fu Li, Yan-Bin Zhang, Ji-Min Wu
    Biomedical Reports.2016; 5(2): 217.     CrossRef
  • NBIA - neurodegeneration with brain iron accumulation
    Lenka Hvizdošová, Michaela Kaiserová, Petr Kaňovský, Marek Baláž
    Neurologie pro praxi.2016; 17(5): 328.     CrossRef
  • Orally Bioavailable Metal Chelators and Radical Scavengers: Multifunctional Antioxidants for the Coadjutant Treatment of Neurodegenerative Diseases
    Hiroyoshi Kawada, Peter F. Kador
    Journal of Medicinal Chemistry.2015; 58(22): 8796.     CrossRef
  • Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity
    M. J. Keogh, B. S. Aribisala, J. He, E. Tulip, D. Butteriss, C. Morris, G. Gorman, R. Horvath, P. F. Chinnery, Andrew M. Blamire
    Journal of Neurology.2015; 262(10): 2232.     CrossRef
  • A field guide to current advances in paediatric movement disorders
    Laura Silveira-Moriyama, Jean-Pierre Lin
    Current Opinion in Neurology.2015; 28(4): 437.     CrossRef
  • En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt
    Marte-Helene Bjørk, Ivar Otto Gjerde, Charalampos Tzoulis, Rune Johan Ulvik, Laurence Albert Bindoff
    Tidsskrift for Den norske legeforening.2015; 135(15): 1369.     CrossRef
  • Iron, Aging, and Neurodegeneration
    Dafina Angelova, David Brown
    Metals.2015; 5(4): 2070.     CrossRef
Original Articles
Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis
Hyun Sook Kim, Chul Hyoung Lyoo, Phil Hyu Lee, Sang Jin Kim, Mee Young Park, Hyeo-Il Ma, Jae Hyeok Lee, Sook Kun Song, Jong Sam Baik, Jin Ho Kim, Myung Sik Lee
J Mov Disord. 2015;8(1):14-20.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14038
  • 15,195 View
  • 110 Download
  • 14 Citations
AbstractAbstract PDF
Objective Huntington’s disease (HD) is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea.
Methods We estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR) and the National Health Insurance (NHI). The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed.
Results The mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001). About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis.
Conclusions To the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.

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  • Epidemiology of Acute Leukemia among Children with Down Syndrome in Korea
    Young Bae Choi, Keon Hee Yoo
    Cancer Research and Treatment.2022; 54(2): 572.     CrossRef
  • Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data
    Sung Eun Kim, Sang Hyun Park, Kyungdo Han, Won Kyoung Cho, Byung-Kyu Suh, Yong-Gyu Park
    Yonsei Medical Journal.2022; 63(11): 991.     CrossRef
  • Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis
    Alex Medina, Yasamin Mahjoub, Larry Shaver, Tamara Pringsheim
    Movement Disorders.2022;[Epub]     CrossRef
  • Contemporary Status of Acute Myocardial Infarction in Korean Patients: Korean Registry of Acute Myocardial Infarction for Regional Cardiocerebrovascular Centers
    Rock Bum Kim, Jin Yong Hwang, Hyun Woong Park, Ae-Young Her, Jang Hoon Lee, Moo Hyun Kim, Chang Hwan Yoon, Jae Young Cho, Sung-Il Woo, Yongcheol Kim, Jae-Young Han, Joon Hyouk Choi, Song Yi Kim, Si Wan Choi, Sung Ju Jee, Sang Yeub Lee, Ki-Bum Won, Kyeong-
    Journal of Clinical Medicine.2021; 10(3): 498.     CrossRef
  • Huntington’s Disease in Israel: A Population-Based Study Using 20 Years of Routinely-Collected Healthcare Data
    Natalie Gavrielov-Yusim, Yael Barer, Michael Martinec, Athanasios Siadimas, Spyros Roumpanis, Hannah Furby, Inbal Goldshtein, Asif Jan, Preciosa M. Coloma
    Journal of Huntington's Disease.2021; 10(4): 469.     CrossRef
  • The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down’s Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data


    Won Kyoung Cho, Na Young Lee, Kyungdo Han, Byung-Kyu Suh, Yong-Gyu Park
    Clinical Epidemiology.2020; Volume 12: 519.     CrossRef
  • Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre
    Paula Sienes Bailo, Raquel Lahoz, Juan Pelegrín Sánchez Marín, Silvia Izquierdo Álvarez
    BMC Medical Genetics.2020;[Epub]     CrossRef
  • The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population
    Chris Kay, Jennifer A. Collins, Galen E.B. Wright, Fiona Baine, Zosia Miedzybrodzka, Folefac Aminkeng, Alicia J. Semaka, Cassandra McDonald, Mark Davidson, Steven J. Madore, Erynn S. Gordon, Norman P. Gerry, Mario Cornejo-Olivas, Ferdinando Squitieri, Sar
    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.2018; 177(3): 346.     CrossRef
  • Quantitative Gait Analysis in Patients with Huntington’s Disease
    Seon Jong Pyo, Hanjun Kim, Il Soo Kim, Young-Min Park, Mi-Jung Kim, Hye Mi Lee, Seong-Beom Koh
    Journal of Movement Disorders.2017; 10(3): 140.     CrossRef
  • Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy
    Erika Carrassi, Maura Pugliatti, Vittorio Govoni, Mariachiara Sensi, Ilaria Casetta, Enrico Granieri
    Neuroepidemiology.2017; 49(1-2): 18.     CrossRef
  • The Epidemiology of Myasthenia Gravis in Korea
    Hyung Seok Lee, Hye Sun Lee, Ha Young Shin, Young-Chul Choi, Seung Min Kim
    Yonsei Medical Journal.2016; 57(2): 419.     CrossRef
  • The global prevalence of Huntington's disease: a systematic review and discussion
    Sheharyar Sajjad Baig, Mark Strong, Oliver WJ Quarrell
    Neurodegenerative Disease Management.2016; 6(4): 331.     CrossRef
  • Clinical and genetic characteristics in patients with Huntington’s disease from China
    Jing Yang, Ke Chen, Qianqian Wei, Yongping Chen, Bei Cao, Jean-Marc Burgunder, Hui-Fang Shang
    Neurological Research.2016; 38(10): 916.     CrossRef
  • Survival of Korean Huntington’s Disease Patients
    Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park
    Journal of Movement Disorders.2016; 9(3): 166.     CrossRef
Apathy and Olfactory Dysfunction in Early Parkinson’s Disease
Jin Yong Hong, Mun Kyung Sunwoo, Jee Hyun Ham, Jae Jung Lee, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2015;8(1):21-25.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14029
  • 13,861 View
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  • 20 Citations
AbstractAbstract PDF
Objective Olfactory and emotional dysfunctions are very common in patients with Parkinson’s disease (PD). Olfaction and emotions share common neuroanatomical substrates. Therefore, in this study, we evaluated the association between olfactory and emotional dysfunctions in patients with PD.
Methods Parkinson’s disease patients who had been assessed for their olfactory function and neuropsychiatric symptoms including emotional dysfunction were included. A logistic regression analysis was performed to evaluate the association between low olfaction and different neuropsychiatric symptoms.
Results The patients with low olfaction (cross cultural smell identification test score ≤ 6) showed a higher prevalence of apathy when compared with those with high olfaction, whereas the frequencies of other neuropsychiatric symptoms were comparable between the two groups. A multivariate logistic regression analysis revealed that the presence of apathy/indifference [odds ratio (OR) = 2.859, p = 0.007], age 70 years or more (OR = 2.281, p = 0.009), and the male gender (OR = 1.916, p = 0.030) were significantly associated with low olfaction.
Conclusions Our results demonstrate that apathy/indifference is a unique emotional dysfunction associated with olfactory dysfunction in PD. The findings also suggest that PD patients with low olfaction have a high prevalence of apathy.

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  • Olfactory dysfunction is associated with motor function only in tremor-dominant Parkinson’s disease
    Fardin Nabizadeh, Kasra Pirahesh, Elham Khalili
    Neurological Sciences.2022; 43(7): 4193.     CrossRef
  • The Power of Odor Persuasion: The Incorporation of Olfactory Cues in Virtual Environments for Personalized Relaxation
    Silvia Francesca Maria Pizzoli, Dario Monzani, Ketti Mazzocco, Emanuela Maggioni, Gabriella Pravettoni
    Perspectives on Psychological Science.2022; 17(3): 652.     CrossRef
  • Olfaction and apathy in early idiopathic Parkinson's disease
    Alfonso E. Martinez-Nunez, Kaitie Latack, Miguel Situ-Kcomt, Abhimanyu Mahajan
    Journal of the Neurological Sciences.2022; 439: 120314.     CrossRef
  • Apathy in Parkinson’s Disease: Defining the Park Apathy Subtype
    Ségolène De Waele, Patrick Cras, David Crosiers
    Brain Sciences.2022; 12(7): 923.     CrossRef
  • α ‐Synuclein Spread from Olfactory Bulb Causes Hyposmia, Anxiety, and Memory Loss in BAC‐ SNCA Mice
    Norihito Uemura, Jun Ueda, Toru Yoshihara, Masashi Ikuno, Maiko T. Uemura, Hodaka Yamakado, Masahide Asano, John Q. Trojanowski, Ryosuke Takahashi
    Movement Disorders.2021; 36(9): 2036.     CrossRef
  • Hyposmia may predict development of freezing of gait in Parkinson’s disease
    Jae Jung Lee, Jin Yong Hong, Jong Sam Baik
    Journal of Neural Transmission.2021; 128(6): 763.     CrossRef
  • Clinical and Dopamine Depletion Patterns in Hyposmia- and Dysautonomia-Dominant Parkinson’s Disease
    Han Soo Yoo, Sangwon Lee, Seong Ho Jeong, Byoung Seok Ye, Young H. Sohn, Mijin Yun, Phil Hyu Lee
    Journal of Parkinson's Disease.2021; 11(4): 1703.     CrossRef
  • Is There a Shared Etiology of Olfactory Impairments in Normal Aging and Neurodegenerative Disease?
    Mahraz Parvand, Catharine H. Rankin, Lori Beason-Held
    Journal of Alzheimer's Disease.2020; 73(1): 1.     CrossRef
  • Open questions on the nature of Parkinson’s disease: from triggers to spreading pathology
    Lei Mou, Wei Ding, Pedro Fernandez-Funez
    Journal of Medical Genetics.2020; 57(2): 73.     CrossRef
  • Effect of Olfactory and Gustatory Dysfunction and Motor Symptoms on Body Weight in Patients with Parkinson’s Disease
    Carla Masala, Francesco Loy, Raffaella Piras, Anna Liscia, Laura Fadda, Alan Moat, Paolo Solla, Giovanni Defazio
    Brain Sciences.2020; 10(4): 218.     CrossRef
  • Insula and Amygdala Atrophy Are Associated With Functional Impairment in Subjects With Presbycusis
    Chama Belkhiria, Rodrigo C. Vergara, Simón San Martin, Alexis Leiva, Melissa Martinez, Bruno Marcenaro, Maricarmen Andrade, Paul H. Delano, Carolina Delgado
    Frontiers in Aging Neuroscience.2020;[Epub]     CrossRef
  • Contribution of Five Functional Loci of Dopamine Metabolism-Related Genes to Parkinson’s Disease and Multiple System Atrophy in a Chinese Population
    Yongping Chen, Ruwei Ou, Lingyu Zhang, Xiaojing Gu, Xiaoqin Yuan, Qian-qian Wei, Bei Cao, Bi Zhao, Ying Wu, Huifang Shang
    Frontiers in Neuroscience.2020;[Epub]     CrossRef
  • Olfactory Dysfunction Predicts Disease Progression in Parkinson’s Disease: A Longitudinal Study
    Runcheng He, Yuwen Zhao, Yan He, Yangjie Zhou, Jinxia Yang, Xiaoting Zhou, Liping Zhu, Xun Zhou, Zhenhua Liu, Qian Xu, Qiying Sun, Jieqiong Tan, Xinxiang Yan, Beisha Tang, Jifeng Guo
    Frontiers in Neuroscience.2020;[Epub]     CrossRef
  • Characteristics of apathy in treatment-naïve patients with Parkinson’s disease
    Hiroo Terashi, Yuki Ueta, Haruhisa Kato, Hiroshi Mitoma, Hitoshi Aizawa
    International Journal of Neuroscience.2019; 129(1): 16.     CrossRef
  • Olfaction and taste in Parkinson’s disease: the association with mild cognitive impairment and the single cognitive domain dysfunction
    Maria Paola Cecchini, Angela Federico, Alice Zanini, Elisa Mantovani, Carla Masala, Michele Tinazzi, Stefano Tamburin
    Journal of Neural Transmission.2019; 126(5): 585.     CrossRef
  • The oral microbiome of early stage Parkinson’s disease and its relationship with functional measures of motor and non-motor function
    Dragos Mihaila, Jordan Donegan, Sarah Barns, Daria LaRocca, Qian Du, Danny Zheng, Michael Vidal, Christopher Neville, Richard Uhlig, Frank A. Middleton, Brenda A Wilson
    PLOS ONE.2019; 14(6): e0218252.     CrossRef
  • Hyposmia as a marker of (non-)motor disease severity in Parkinson’s disease
    Dareia S. Roos, Jos W. R. Twisk, Pieter G. H. M. Raijmakers, Richard L. Doty, Henk W. Berendse
    Journal of Neural Transmission.2019; 126(11): 1471.     CrossRef
  • Correlation among olfactory function, motors’ symptoms, cognitive impairment, apathy, and fatigue in patients with Parkinson’s disease
    Carla Masala, Paolo Solla, A. Liscia, G. Defazio, L. Saba, A. Cannas, A. Cavazzana, T. Hummel, A. Haehner
    Journal of Neurology.2018; 265(8): 1764.     CrossRef
  • Olfactory Dysfunction as an Early Biomarker in Parkinson’s Disease
    Michelle E. Fullard, James F. Morley, John E. Duda
    Neuroscience Bulletin.2017; 33(5): 515.     CrossRef
  • Human behavioral assessments in current research of Parkinson’s disease
    Tetsuya Asakawa, Huan Fang, Kenji Sugiyama, Takao Nozaki, Susumu Kobayashi, Zhen Hong, Katsuaki Suzuki, Norio Mori, Yilin Yang, Fei Hua, Guanghong Ding, Guoqiang Wen, Hiroki Namba, Ying Xia
    Neuroscience & Biobehavioral Reviews.2016; 68: 741.     CrossRef
Neuropsychiatric Symptoms in Parkinson’s Disease Dementia Are Associated with Increased Caregiver Burden
Yoon-Sang Oh, Ji E. Lee, Phil Hyu Lee, Joong-Seok Kim
J Mov Disord. 2015;8(1):26-32.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14019
  • 18,478 View
  • 110 Download
  • 29 Citations
AbstractAbstract PDF
Objective Neuropsychiatric symptoms are common in Parkinson’s disease dementia (PDD). Frequent and severe neuropsychiatric symptoms create high levels of distress for patients and caregivers, decreasing their quality of life. The aim of this study was to investigate neuropsychiatric symptoms that may contribute to increased caregiver burden in PDD patients.
Methods Forty-eight PDD patients were assessed using the 12-item Neuropsychiatric Inventory (NPI) to determine the frequency and severity of mental and behavioral problems. The Burden Interview and Caregiver Burden Inventory were used to evaluate caregiver burden.
Results All but one patient showed one or more neuropsychiatric symptoms. The three most frequent neuropsychiatric symptoms were apathy (70.8%) and anxiety (70.8%), followed by depression (68.7%). More severe neuropsychiatric symptoms were significantly correlated with increased caregiver burden. The domains of delusion, hallucination, agitation and aggression, anxiety, irritability and lability, and aberrant motor behavior were associated with caregiver stress. After controlling for age and other potential confounding variables, total NPI score was significantly associated with caregiver burden.
Conclusions The results of this study confirm that neuropsychiatric symptoms are frequent and severe in patients with PDD and are associated with increased caregiver distress. A detailed evaluation and management of neuropsychiatric symptoms in PDD patients appears necessary to improve patient quality of life and reduce caregiver burden.

Citations

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  • Caregiver Burden in Late-Stage Parkinsonism and Its Associations
    Stefania Kalampokini, Adrianus L. A. J. Hommel, Stefan Lorenzl, Joaquim J. Ferreira, Wassilios G. Meissner, Per Odin, Bastiaan R. Bloem, Richard Dodel, Anette-Eleonore Schrag
    Journal of Geriatric Psychiatry and Neurology.2022; 35(1): 110.     CrossRef
  • Psychometric Properties of Clinical Indicators for Identification and Management of Advanced Parkinson’s Disease: Real-World Evidence From G7 Countries
    Angelo Antonini, Rajesh Pahwa, Per Odin, Tove Henriksen, Michael J. Soileau, Ramon Rodriguez-Cruz, Stuart H. Isaacson, Aristide Merola, Susanna Lindvall, Josefa Domingos, Ali Alobaidi, Yash J. Jalundhwala, Prasanna L. Kandukuri, Juan Carlos Parra, Pavnit
    Neurology and Therapy.2022; 11(1): 303.     CrossRef
  • Impact of Isolation During the COVID-19 Pandemic on the Patient Burden of Parkinson’s Disease: A PMD Alliance Survey
    Neal Hermanowicz, Maria Cristina Ospina, Yasar Torres-Yaghi, Sherrie Gould, Kelly Papesh, Jason A Rivera, Susan Miller, Sarah Jones, Kelli Musick, Damian May
    Neuropsychiatric Disease and Treatment.2022; Volume 18: 633.     CrossRef
  • Exploring the experiences of living with Lewy body dementia: An integrative review
    Allison Bentley, Tessa Morgan, Yakubu Salifu, Catherine Walshe
    Journal of Advanced Nursing.2021; 77(12): 4632.     CrossRef
  • Neuropsychiatric symptoms in Parkinson’s disease: association with caregiver distress and disease severity
    Wan-Chen Tsai, Hui-Chen Lin, Chiung-Chih Chang, Wen-Neng Chang, Chih-Cheng Huang, Kuei-Yueh Cheng, Hung-Chen Wang, Wei-Che Lin, Sheng-Yuan Hsiao, Yun-Ru Lai, Cheng-Hsien Lu, Nai-Wen Tsai
    International Psychogeriatrics.2020; 32(6): 733.     CrossRef
  • Caregiver Burden, Quality of Life and Related Factors in Family Caregivers of Dementia Patients in Turkey
    Zeliha Tulek, Dilek Baykal, Sumeyye Erturk, Basar Bilgic, Hasmet Hanagasi, I. Hakan Gurvit
    Issues in Mental Health Nursing.2020; 41(8): 741.     CrossRef
  • Identifying and responding to fatigue and apathy in Parkinson’s disease: a review of current practice
    Claudia Lazcano-Ocampo, Yi Min Wan, Daniel J van Wamelen, Lucia Batzu, Iro Boura, Nataliya Titova, Valentina Leta, Mubasher Qamar, Pablo Martinez-Martin, K Ray Chaudhuri
    Expert Review of Neurotherapeutics.2020; 20(5): 477.     CrossRef
  • A systematic review of the association between individual behavioural and psychological symptoms in dementia and carer burden
    Catriona George, Nuno Ferreira, Rosalind Evans, Victoria Honeyman
    Working with Older People.2020; 24(3): 181.     CrossRef
  • Impact of Supporting People with Advanced Parkinson’s Disease on Carer’s Quality of Life and Burden


    Nicola Modugno, Angelo Antonini, Alessandro Tessitore, Pietro Marano, Francesco Ernesto Pontieri, Nicola Tambasco, Margherita Canesi, Giovanni Fabbrini, Mariachiara Sensi, Rocco Quatrale, Paolo Solla, Giovanni Defazio, Gabriella Melzi, Giuliana Gualberti,
    Neuropsychiatric Disease and Treatment.2020; Volume 16: 2899.     CrossRef
  • A Comparative Study of the Behavioral Profile of the Behavioral Variant of Frontotemporal Dementia and Parkinson’s Disease Dementia
    Dinesh Saini, Adreesh Mukherjee, Arijit Roy, Atanu Biswas
    Dementia and Geriatric Cognitive Disorders Extra.2020; 10(3): 182.     CrossRef
  • The long‐term direct and indirect economic burden among Parkinson's disease caregivers in the United States
    Pablo Martinez‐Martin, Dendy Macaulay, Yash J. Jalundhwala, Fan Mu, Erika Ohashi, Thomas Marshall, Kavita Sail
    Movement Disorders.2019; 34(2): 236.     CrossRef
  • The association between specific neuropsychiatric disturbances in people with Alzheimer's disease and dementia with Lewy bodies and carer distress
    Toril Marie Terum, Ingelin Testad, Arvid Rongve, Dag Aarsland, Ellen Svendsboe, John Roger Andersen
    International Journal of Geriatric Psychiatry.2019; 34(10): 1421.     CrossRef
  • Trait Impulsivity Is Independent of Mild Cognitive Impairment in a Parkinson’s Disease Cohort
    Ashani Jeyadevan, Megan C. Bakeberg, Michelle Byrnes, Jade Kenna, Soumya Ghosh, Rick Stell, Sue Walters, Tess Evans, Sarah McGregor, Malcolm Horne, Frank L. Mastaglia, Ryan S. Anderton
    Parkinson's Disease.2019; 2019: 1.     CrossRef
  • Caregiver burden and its related factors in advanced Parkinson’s disease: data from the PREDICT study
    Alessandro Tessitore, Pietro Marano, Nicola Modugno, Francesco E. Pontieri, Nicola Tambasco, Margherita Canesi, Anna Latorre, Leonardo Lopiano, Mariachiara Sensi, Rocco Quatrale, Paolo Solla, Giovanni Defazio, Gabriella Melzi, Anna Maria Costanzo, Giulian
    Journal of Neurology.2018; 265(5): 1124.     CrossRef
  • Estudio observacional transversal de la sobrecarga en cuidadoras informales y los determinantes relacionados con la atención a las personas dependientes
    Ana María Rodríguez-González, Eva Rodríguez-Míguez, Ana Duarte-Pérez, Eduardo Díaz-Sanisidro, Ángel Barbosa-Álvarez, Ana Clavería
    Atención Primaria.2017; 49(3): 156.     CrossRef
  • Cognitive impairment in Parkinson's disease: impact on quality of life of carers
    RA Lawson, AJ Yarnall, F Johnston, GW Duncan, TK Khoo, D Collerton, JP Taylor, DJ Burn
    International Journal of Geriatric Psychiatry.2017; 32(12): 1362.     CrossRef
  • Rivastigmine as a Symptomatic Treatment for Apathy in Parkinson’s Dementia Complex: New Aspects for This Riddle
    Rita Moretti, Paola Caruso, Matteo Dal Ben
    Parkinson's Disease.2017; 2017: 1.     CrossRef
  • The relationship of specific items on the Neuropsychiatric Inventory to caregiver burden in dementia: a systematic review
    Toril Marie Terum, John Roger Andersen, Arvid Rongve, Dag Aarsland, Ellen J. Svendsboe, Ingelin Testad
    International Journal of Geriatric Psychiatry.2017; 32(7): 703.     CrossRef
  • Neuropsychiatric symptoms in Alzheimer’s disease: associations with caregiver burden and treatment outcomes
    C.T. Chen, C.-C. Chang, W.-N. Chang, N.-W. Tsai, C.-C. Huang, Y.-T. Chang, H.-C. Wang, C.-T. Kung, Y.-J. Su, W.-C. Lin, B.-C. Cheng, C.-M. Su, S.-Y. Hsiao, C.-W. Hsu, C.-H. Lu
    QJM: An International Journal of Medicine.2017; 110(9): 565.     CrossRef
  • Hallucinations in Healthy Older Adults: An Overview of the Literature and Perspectives for Future Research
    Johanna C. Badcock, Hedwige Dehon, Frank Larøi
    Frontiers in Psychology.2017;[Epub]     CrossRef
  • Dementia Caregiver Burden: a Research Update and Critical Analysis
    Sheung-Tak Cheng
    Current Psychiatry Reports.2017;[Epub]     CrossRef
  • Patients and Their Caregivers’ Burdens for Parkinson’s Disease in Korea
    Jong Sam Baik, Joong-Seok Kim, Seong-Beom Koh, Jin Whan Cho, Phil Hyu Lee, Hyeo-Il Ma, Yun Joong Kim, Tae-Beom Ahn, Sang Jin Kim, Yong Duk Kim, Seong-min Choi, Ho-Won Lee, Hee Tae Kim
    Journal of Movement Disorders.2017; 10(3): 109.     CrossRef
  • Prevalence and treatment pattern of Parkinson's disease dementia in Korea
    Yoon-Sang Oh, Joong-Seok Kim, In-Seok Park, Yong-Soo Shim, In-Uk Song, Jeong-Wook Park, Phil-Hyu Lee, Chul-Hyung Lyoo, Tae-Beom Ahn, Hyo-Il Ma, Yong-Duk Kim, Seong-Beom Koh, Seung-Jae Lee, Kwang-Soo Lee
    Geriatrics & Gerontology International.2016; 16(2): 230.     CrossRef
  • Genetic architecture for human aggression: A study of gene-phenotype relationship in OMIM
    Yanli Zhang-James, Stephen V. Faraone
    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.2016; 171(5): 641.     CrossRef
  • The relationship between specific cognitive defects and burden of care in Parkinson's disease
    Michael Zhong, Richard Peppard, Dennis Velakoulis, Andrew H. Evans
    International Psychogeriatrics.2016; 28(2): 275.     CrossRef
  • Effect of lumbo-peritoneal shunt surgery on neuropsychiatric symptoms in patients with idiopathic normal pressure hydrocephalus
    Hideki Kanemoto, Hiroaki Kazui, Yukiko Suzuki, Syunsuke Sato, Haruhiko Kishima, Toshiki Yoshimine, Kenji Yoshiyama
    Journal of the Neurological Sciences.2016; 361: 206.     CrossRef
  • The safety, tolerability and efficacy of pimavanserin tartrate in the treatment of psychosis in Parkinson’s disease
    Stefan Hermanowicz, Neal Hermanowicz
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Ataxia with Vitamin E Deficiency in Norway
Areej Elkamil, Krisztina K. Johansen, Jan Aasly
J Mov Disord. 2015;8(1):33-36.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14030
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AbstractAbstract PDF
Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.

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    The Journal of Medical Investigation.2021; 68(3.4): 400.     CrossRef
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  • Essential tremor: the most common form of cerebellar degeneration?
    Elan D. Louis, Phyllis L. Faust
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  • Nutrition Can Help DNA Repair in the Case of Aging
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  • Two infants with abetalipoproteinemia: Classic versus atypical presentation
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    Pediatrics International.2019; 61(5): 508.     CrossRef
  • A clinical diagnostic algorithm for early onset cerebellar ataxia
    R. Brandsma, C.C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic-Sreckovic, O.F. Brouwer, K. Bürk, C.E. Catsman-Berrevoets, D. Craiu, I.F.M. de Coo, J. Gburek, C. Kennedy, T.J. de Koning, H.P.H. Kremer, R. Kum
    European Journal of Paediatric Neurology.2019; 23(5): 692.     CrossRef
  • Subacute combined degeneration associated with vitamin E deficiency due to small bowel obstruction
    Jong Burm Jung, Yuntae Kim, Kiyoung Oh, Soo A Kim, Joung Hyun Doh, Hye Jeong Oh, Jin Myoung Seok
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  • A Review on the Relationship between Tocotrienol and Alzheimer Disease
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  • Neurodegeneration bei Vitamin-E-Mangel
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    DGNeurologie.2018; 1(2): 115.     CrossRef
  • Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)
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    Italian Journal of Pediatrics.2017;[Epub]     CrossRef
Letter to the editor
A Patient with Unilateral Periodic Leg Movements Associated with Pontine Infarction
Joon Won Lee, Kyong Jin Shin, Sam Yeol Ha, Jinse Park, Kang Min Park
J Mov Disord. 2015;8(1):37-39.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14017
  • 14,476 View
  • 44 Download
  • 3 Citations
PDF

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  • Acute-onset Restless legs syndrome in acute neurological conditions-a prospective study on patients with the Guillain-Barre syndrome and acute stroke
    S. Chandan, G. Shukla, A. Gupta, A. Srivastava, D. Vibha, K. Prasad
    Acta Neurologica Scandinavica.2018; 137(5): 488.     CrossRef
  • Post-stroke restless leg syndrome and periodic limb movements in sleep
    H. G. Woo, D. Lee, K. J. Hwang, T.-B. Ahn
    Acta Neurologica Scandinavica.2017; 135(2): 204.     CrossRef

JMD : Journal of Movement Disorders