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Original Article
Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
J Mov Disord. 2022;15(3):241-248.   Published online July 26, 2022
DOI: https://doi.org/10.14802/jmd.22002
  • 2,749 View
  • 172 Download
  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDFSupplementary Material
Objective
To investigate the long-term clinical outcomes of pallidal deep brain stimulation (GPi-DBS) in patients with pantothenate kinase-associated neurodegeneration (PKAN).
Methods
We reviewed the records of patients with genetically confirmed PKAN who received bilateral GPi-DBS for refractory dystonia and were clinically followed up for at least 2 years postoperatively at two centers in Korea. Pre- and postoperative Burke– Fahn–Marsden Dystonia Rating Scale motor subscale (BFMDRS-M) scores, disability subscale (BFMDRS-D) scores, and qualitative clinical information were prospectively collected. Descriptive analysis was performed for BFMDRS-M scores, BFMDRSD scores, and the orofacial, axial, and limb subscores of the BFMDRS-M at 6–12, 24–36, and 60–72 months postoperatively.
Results
Five classic-type, four atypical-type, and one unknown-type PKAN cases were identified. The mean preoperative BFMDRS-M score was 92.1 for the classic type and 38.5 for the atypical or unknown type, with a mean BFMDRS follow-up of 50.7 months and a clinical follow-up of 69.0 months. The mean improvements in BFMDRS-M score were 11.3%, 41.3%, and 30.5% at 6–12, 24–36, and 60–72 months, respectively. In four patients with full regular evaluations until 60–72 months, improvements in the orofacial, axial, and limb subscores persisted, but the disability scores worsened from 24–36 months post-operation compared to the baseline, mainly owing to the aggravation of eating and feeding disabilities.
Conclusion
The benefits of GPi-DBS on dystonia may persist for more than 5 years in PKAN. The effects on patients’ subjective disability may have a shorter duration despite improvements in dystonia owing to the complex manifestations of PKAN.

Citations

Citations to this article as recorded by  
  • Deep Brain Stimulation for Refractory Status Dystonicus in Children: Multicenter Case Series and Systematic Review
    Lindsey M. Vogt, Han Yan, Brendan Santyr, Sara Breitbart, Melanie Anderson, Jürgen Germann, Karlo J. Lizarraga, Angela L. Hewitt, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky
    Annals of Neurology.2024; 95(1): 156.     CrossRef
  • Surgical treatment of movement disorders in neurometabolic conditions
    Alonso Zea Vera, Andrea L. Gropman
    Frontiers in Neurology.2023;[Epub]     CrossRef
Review Article
Environmental Risk Factors for Progressive Supranuclear Palsy
Hee Kyung Park, Sindana D. Ilango, Irene Litvan
J Mov Disord. 2021;14(2):103-113.   Published online May 26, 2021
DOI: https://doi.org/10.14802/jmd.20173
  • 9,819 View
  • 274 Download
  • 5 Web of Science
  • 7 Crossref
AbstractAbstract PDF
Typically, progressive supranuclear palsy (PSP) is clinically characterized by slow vertical saccades or supranuclear gaze palsy, levodopa-resistant parkinsonism with predominant axial symptoms, and cognitive executive impairment. Over the past decades, various PSP phenotypes, including PSP with predominant parkinsonism, PSP with corticobasal syndrome, PSP with progressive gait freezing, and PSP with predominant frontal dysfunction, have been identified from pathologically confirmed cases. Expanding knowledge led to new diagnostic criteria for PSP that with increased disease awareness led to increased PSP prevalence estimates. The identification of environmental and modifiable risk factors creates an opportunity to intervene and delay the onset of PSP or slow disease progression. To date, despite the increasing number of publications assessing risk factors for PSP, few articles have focused on environmental and lifestyle risk factors for this disorder. In this article, we reviewed the literature investigating the relationship between PSP and several environmental and other modifiable lifestyle risk factors. In our review, we found that exposures to toxins related to diet, metals, well water, and hypertension were associated with increased PSP risk. In contrast, higher education and statins may be protective. Further case-control studies are encouraged to determine the exact role of these factors in the etiopathogenesis of PSP, which in turn would inform strategies to prevent and reduce the burden of PSP.

Citations

Citations to this article as recorded by  
  • Parkinson’s Disease is Predominantly a Genetic Disease
    Shen-Yang Lim, Christine Klein
    Journal of Parkinson's Disease.2024; : 1.     CrossRef
  • Progressive supranuclear palsy’s economical burden: the use and costs of healthcare resources in a large health provider in Israel
    Yael Barer, Raanan Cohen, Meital Grabarnik-John, Xiaolan Ye, Jorge Zamudio, Tanya Gurevich, Gabriel Chodick
    Journal of Neurology.2023; 270(8): 3770.     CrossRef
  • The Pesticide Chlordecone Promotes Parkinsonism-like Neurodegeneration with Tau Lesions in Midbrain Cultures and C. elegans Worms
    Valeria Parrales-Macias, Patrick P. Michel, Aurore Tourville, Rita Raisman-Vozari, Stéphane Haïk, Stéphane Hunot, Nicolas Bizat, Annie Lannuzel
    Cells.2023; 12(9): 1336.     CrossRef
  • The prevalence and incidence of progressive supranuclear palsy and corticobasal syndrome: a systematic review and meta-analysis
    Shane Lyons, Dominic Trépel, Tim Lynch, Richard Walsh, Sean O’Dowd
    Journal of Neurology.2023; 270(9): 4451.     CrossRef
  • Analysis of Genetic and MRI Changes, Blood Markers, and Risk Factors in a Twin Pair Discordant of Progressive Supranuclear Palsy
    Aliz Persely, Beatrix Beszedics, Krisztina Paloczi, Marton Piroska, Amirreza Alijanpourotaghsara, David Strelnikov, Arsalan Vessal, Helga Szabo, Anita Hernyes, Luca Zoldi, Zsofia Jokkel, Andrea Fekete, Janos Juhasz, Nora Makra, Dora Szabo, Edit Buzas, Ada
    Medicina.2023; 59(10): 1696.     CrossRef
  • Dementia Prevention in Clinical Practice
    Kellyann Niotis, Kiarra Akiyoshi, Caroline Carlton, Richard Isaacson
    Seminars in Neurology.2022; 42(05): 525.     CrossRef
  • Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future
    Shane Lyons, Sean O'Dowd, Richard Walsh, Tim Lynch
    Advances in Clinical Neuroscience & Rehabilitation.2022;[Epub]     CrossRef
Case Report
A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris
J Mov Disord. 2018;11(2):89-92.   Published online May 30, 2018
DOI: https://doi.org/10.14802/jmd.17082
  • 25,721 View
  • 158 Download
  • 10 Web of Science
  • 11 Crossref
AbstractAbstract PDFSupplementary Material
We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient’s disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.

Citations

Citations to this article as recorded by  
  • Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases
    Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe
    Autophagy.2022; 18(7): 1715.     CrossRef
  • Cerebral Iron Deposition in Neurodegeneration
    Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
    Biomolecules.2022; 12(5): 714.     CrossRef
  • Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
    Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla
    Neurobiology of Disease.2022; 175: 105920.     CrossRef
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    Kiwako Tsukida, Shin-ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu
    Brain Communications.2022;[Epub]     CrossRef
  • Iron Chelation in Movement Disorders: Logical or Ironical
    Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2021; : 1.     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
  • 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
    Developmental Medicine & Child Neurology.2021; 63(12): 1402.     CrossRef
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    Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe
    Autophagy.2021; 17(12): 3908.     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
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    Yunsung Kim, James R. Connor
    Molecular Aspects of Medicine.2020; 75: 100867.     CrossRef
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    Karina Joppe, Anna-Elisa Roser, Fabian Maass, Paul Lingor
    Frontiers in Neuroscience.2019;[Epub]     CrossRef
Original Article
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, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee
J Mov Disord. 2016;9(1):20-27.   Published online January 25, 2016
DOI: https://doi.org/10.14802/jmd.15058
  • 21,262 View
  • 226 Download
  • 20 Web of Science
  • 16 Crossref
AbstractAbstract PDFSupplementary Material
Objective
Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
Methods
We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
Results
Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
Conclusions
We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

Citations

Citations to this article as recorded by  
  • Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
    Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
    Frontiers in Neurology.2023;[Epub]     CrossRef
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    Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
    Medicine.2023; 102(43): e34853.     CrossRef
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  • Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
    Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
    Journal of Movement Disorders.2022; 15(3): 241.     CrossRef
  • Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
    Luz María González Huerta, Sorina Gómez González, Jaime Toral López
    Psychiatric Genetics.2021; 31(3): 95.     CrossRef
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    Nivedita Thakur, Thomas Klopstock, Suzanne Jackowski, Enej Kuscer, Fernando Tricta, Aleksandar Videnovic, Hyder A. Jinnah
    Movement Disorders.2021; 36(9): 2005.     CrossRef
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    Ali S. Shalash, Thomas W. Rösler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger, Mohamed Salama
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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
  • 40,683 View
  • 1,023 Download
  • 148 Web of Science
  • 126 Crossref
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.

Citations

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  • Olfactory status in neurodegeneration with brain iron accumulation disorders
    Elahe Amini, Mohammad Rohani, Maryam Jalessi, Zahra Azad, Franco Valzania, Francesco Cavallieri, Mohammad Farhadi, Zeinab Gholibeigian
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    Steven Bellows, Joseph Jankovic
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JMD : Journal of Movement Disorders