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Jae-Hyeok Lee 7 Articles
Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene
Jae-Hyeok Lee, Jin-Hong Shin
J Mov Disord. 2022;15(2):171-174.   Published online March 22, 2022
DOI: https://doi.org/10.14802/jmd.21143
  • 2,456 View
  • 178 Download
  • 6 Citations
AbstractAbstract PDF
Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset dystonia. Magnetic resonance imaging showed T1 hyperintensity throughout the basal ganglia, brainstem, cerebellum, cerebral and cerebellar white matter, and pituitary gland. Blood manganese levels were elevated, and whole-exome sequencing revealed compound heterozygous mutations in SLC39A14. Treatment with intravenous CaNa2EDTA led to a significant reduction in serum manganese levels and T1 hyperintensities. However, her dystonia improved insignificantly. Hence, early diagnosis of this genetic disorder is essential because it is potentially treatable. Even though our treatment did not significantly reverse the establish deficits, chelation therapy could have been more effective if it was started at an earlier stage of the disease.

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  • Recent progress toward understanding the role of ZIP14 in regulating systemic manganese homeostasis
    Shannon McCabe, Kirsten Limesand, Ningning Zhao
    Computational and Structural Biotechnology Journal.2023; 21: 2332.     CrossRef
  • Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation
    Qingli Liu, Supak Jenkitkasemwong, Tamanna Afrin Prami, Shannon Morgan McCabe, Ningning Zhao, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
    Journal of Biological Chemistry.2023; 299(8): 105078.     CrossRef
  • Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish
    Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nent
    Disease Models & Mechanisms.2022;[Epub]     CrossRef
  • Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models
    Alexander N. Rodichkin, Tomás R. Guilarte
    International Journal of Molecular Sciences.2022; 23(21): 12833.     CrossRef
  • Pathophysiological studies of aging Slc39a14 knockout mice to assess the progression of manganese-induced dystonia-parkinsonism
    Alexander N. Rodichkin, Melissa K. Edler, Jennifer L. McGlothan, Tomás R. Guilarte
    NeuroToxicology.2022; 93: 92.     CrossRef
  • Mechanisms of manganese-induced neurotoxicity and the pursuit of neurotherapeutic strategies
    Edward Pajarillo, Ivan Nyarko-Danquah, Alexis Digman, Harpreet Kaur Multani, Sanghoon Kim, Patric Gaspard, Michael Aschner, Eunsook Lee
    Frontiers in Pharmacology.2022;[Epub]     CrossRef
Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family
Minkyeong Kim, Seung Hwan Oh, Jae Wook Cho, Jae-Hyeok Lee
J Mov Disord. 2020;13(3):244-246.   Published online September 9, 2020
DOI: https://doi.org/10.14802/jmd.20064
  • 4,082 View
  • 75 Download
  • 1 Citations
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  • A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias
    Mehri Salari, Masoud Etemadifar, Ronak Rashedi, Sayna Mardani
    The Cerebellum.2023;[Epub]     CrossRef
Validation of the Korean Version of the Scale for Outcomes in Parkinson’s Disease-Autonomic
Ji-Young Kim, In-Uk Song, Seong-Beom Koh, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Jin Whan Cho, Yun Joong Kim, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Eung Seok Oh, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Hyung-Eun Park, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim
J Mov Disord. 2017;10(1):29-34.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16057
  • 14,553 View
  • 354 Download
  • 30 Citations
AbstractAbstract PDFSupplementary Material
Objective
Autonomic symptoms are commonly observed in patients with Parkinson’s disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson’s disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients.
Methods
For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days.
Results
The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach’s α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson’s Disease Rating Scale part II) and quality of life [the Korean version of Parkinson’s Disease Quality of Life 39 (K-PDQ39)].
Conclusion
The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.

Citations

Citations to this article as recorded by  
  • Association Between Gait and Dysautonomia in Patients With De Novo Parkinson’s Disease: Forward Gait Versus Backward Gait
    Seon-Min Lee, Mina Lee, Eun Ji Lee, Rae On Kim, Yongduk Kim, Kyum-Yil Kwon
    Journal of Movement Disorders.2023; 16(1): 59.     CrossRef
  • Beyond shallow feelings of complex affect: Non-motor correlates of subjective emotional experience in Parkinson’s disease
    Claudia Carricarte Naranjo, Claudia Sánchez Luaces, Ivonne Pedroso Ibáñez, Andrés Machado, Hichem Sahli, María Antonieta Bobes, Vincenzo De Luca
    PLOS ONE.2023; 18(2): e0281959.     CrossRef
  • Autonomic function and motor subtypes in Parkinson’s disease: a multicentre cross-sectional study
    Si-Chun Gu, Rong Shi, Chen Gao, Xiao-Lei Yuan, You Wu, Zhen-Guo Liu, Chang-De Wang, Shao-Rong Zhao, Xiqun Chen, Can-Xing Yuan, Qing Ye
    Scientific Reports.2023;[Epub]     CrossRef
  • Baseline prevalence and longitudinal assessment of autonomic dysfunction in early Parkinson’s disease
    Lanqing Yang, Huan Gao, Min Ye
    Journal of Neural Transmission.2023;[Epub]     CrossRef
  • Clinical manifestation of patients with isolated rapid eye movement sleep behavior disorder after modest-to-long disease duration
    Jung Kyung Hong, Jong-Min Kim, Ki-woong Kim, Ji Won Han, Soyeon Ahn, In-Young Yoon
    Sleep.2022;[Epub]     CrossRef
  • Associations of cognitive dysfunction with motor and non-motor symptoms in patients with de novo Parkinson’s disease
    Kyum-Yil Kwon, Suyeon Park, Rae On Kim, Eun Ji Lee, Mina Lee
    Scientific Reports.2022;[Epub]     CrossRef
  • Autonomic dysfunction in Parkinson's disease: Results from the Faroese Parkinson's disease cohort
    Aksel Berg, Sára Bech, Jan Aasly, Matthew J. Farrer, Maria Skaalum Petersen
    Neuroscience Letters.2022; 785: 136789.     CrossRef
  • Prevalence of lower urinary tract symptoms, urinary incontinence and retention in Parkinson's disease: A systematic review and meta-analysis
    Fang-Fei Li, Yu-Sha Cui, Rui Yan, Shuang-Shuang Cao, Tao Feng
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • White matter tract-specific microstructural disruption is associated with depressive symptoms in isolated RBD
    Jung-Ick Byun, Seunghwan Oh, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Joon-Kyung Seong, Ki-Young Jung
    NeuroImage: Clinical.2022; 36: 103186.     CrossRef
  • Comparison of disease progression between brain-predominant Parkinson's disease versus Parkinson's disease with body-involvement phenotypes
    Dong-Woo Ryu, Sang-Won Yoo, Yoon-Sang Oh, Kwang-Soo Lee, Seunggyun Ha, Joong-Seok Kim
    Neurobiology of Disease.2022; 174: 105883.     CrossRef
  • Corneal confocal microscopy differentiates patients with Parkinson’s disease with and without autonomic involvement
    Ning-Ning Che, Shuai Chen, Qiu-Huan Jiang, Si-Yuan Chen, Zhen-Xiang Zhao, Xue Li, Rayaz A. Malik, Jian-Jun Ma, Hong-Qi Yang
    npj Parkinson's Disease.2022;[Epub]     CrossRef
  • Association of Nucleus Basalis of Meynert Functional Connectivity and Cognition in Idiopathic Rapid-Eye-Movement Sleep Behavior Disorder
    Jung-Ick Byun, Kwang Su Cha, Minah Kim, Woo-Jin Lee, Han Sang Lee, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Carlos H. Schenck, Sang Kun Lee, Ki-Young Jung
    Journal of Clinical Neurology.2022; 18(5): 562.     CrossRef
  • White Matter Tract-Specific Microstructural Disruption is Associated with Depressive Symptoms in Isolated Rbd
    Jung-Ick Byun, Seunghwan Oh, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jin-Sun Jun, Han-Joon Kim, Won Chul Shin, Joon-Kyung Seong, Ki-Young Jung
    SSRN Electronic Journal .2022;[Epub]     CrossRef
  • Altered insular functional connectivity in isolated REM sleep behavior disorder: a data-driven functional MRI study
    Jung-Ick Byun, Kwang Su Cha, Minah Kim, Woo-Jin Lee, Han Sang Lee, Jun-Sang Sunwoo, Jung-Won Shin, Tae-Joon Kim, Jangsup Moon, Soon-Tae Lee, Keun-Hwa Jung, Kon Chu, Man-Ho Kim, Han-Joon Kim, Won Chul Shin, Sang Kun Lee, Ki-Young Jung
    Sleep Medicine.2021; 79: 88.     CrossRef
  • Association of fall risk factors and non-motor symptoms in patients with early Parkinson’s disease
    Kyum-Yil Kwon, Suyeon Park, Eun Ji Lee, Mina Lee, Hyunjin Ju
    Scientific Reports.2021;[Epub]     CrossRef
  • Impact of motor subtype on non‐motor symptoms and fall‐related features in patients with early Parkinson's disease
    Kyum‐Yil Kwon, Eun Ji Lee, Mina Lee, Hyunjin Ju, Kayeong Im
    Geriatrics & Gerontology International.2021; 21(5): 416.     CrossRef
  • Extra-basal ganglia iron content and non-motor symptoms in drug-naïve, early Parkinson’s disease
    Minkyeong Kim, Seulki Yoo, Doyeon Kim, Jin Whan Cho, Ji Sun Kim, Jong Hyun Ahn, Jun Kyu Mun, Inyoung Choi, Seung-Kyun Lee, Jinyoung Youn
    Neurological Sciences.2021; 42(12): 5297.     CrossRef
  • Clinical Assessment Scales in Autonomic Nervous System Disorders
    Eun Bin Cho, Ki-Jong Park
    Journal of the Korean Neurological Association.2021; 39(2 Suppl): 60.     CrossRef
  • Cardiac sympathetic burden reflects Parkinson disease burden, regardless of high or low orthostatic blood pressure changes
    Sang-Won Yoo, Joong-Seok Kim, Yoon-Sang Oh, Dong-Woo Ryu, Seunggyun Ha, Ji-Yeon Yoo, Kwang-Soo Lee
    npj Parkinson's Disease.2021;[Epub]     CrossRef
  • Understanding fatigue in progressive supranuclear palsy
    Jong Hyeon Ahn, Joomee Song, Dong Yeong Lee, Jinyoung Youn, Jin Whan Cho
    Scientific Reports.2021;[Epub]     CrossRef
  • Validation of the Korean version of the composite autonomic symptom scale 31 in patients with Parkinson’s disease
    Jong Hyeon Ahn, Jin Myoung Seok, Jongkyu Park, Heejeong Jeong, Younsoo Kim, Joomee Song, Inyoung Choi, Jin Whan Cho, Ju-Hong Min, Byoung Joon Kim, Jinyoung Youn, Antonina Luca
    PLOS ONE.2021; 16(10): e0258897.     CrossRef
  • Cardiac Autonomic Dysfunction Is Associated with Severity of REM Sleep without Atonia in Isolated REM Sleep Behavior Disorder
    Sooyeoun You, Kyoung Sook Won, Keun Tae Kim, Hyang Woon Lee, Yong Won Cho
    Journal of Clinical Medicine.2021; 10(22): 5414.     CrossRef
  • Characteristics of Autonomic Dysfunction in Parkinson’s Disease: A Large Chinese Multicenter Cohort Study
    Zhou Zhou, Xiaoting Zhou, Xiaoxia Zhou, Yaqin Xiang, Liping Zhu, Lixia Qin, Yige Wang, Hongxu Pan, Yuwen Zhao, Qiying Sun, Qian Xu, Xinyin Wu, Xinxiang Yan, Jifeng Guo, Beisha Tang, Zhenhua Liu
    Frontiers in Aging Neuroscience.2021;[Epub]     CrossRef
  • Autonomic Dysfunction in Parkinson's Disease: Results from the Faroese Parkinson's Disease Cohort
    Aksel Kambsskarð Berg, Sára Bech, Jan O. Aasly, Matthew J. Farrer, Maria Skaalum Petersen
    SSRN Electronic Journal .2021;[Epub]     CrossRef
  • Subtypes of Sleep Disturbance in Parkinson's Disease Based on the Cross-Culturally Validated Korean Version of Parkinson's Disease Sleep Scale-2
    Hui-Jun Yang, Han-Joon Kim, Seong-Beom Koh, Joong-Seok Kim, Tae-Beom Ahn, Sang-Myung Cheon, Jin Whan Cho, Yoon-Joong Kim, Hyeo-Il Ma, Mee Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, In-Uk Song, Ji-Young Kim, Young-Hee Sung, Do You
    Journal of Clinical Neurology.2020; 16(1): 66.     CrossRef
  • Risk Factors for Falls in Patients with de novo Parkinson’s Disease: A Focus on Motor and Non-Motor Symptoms
    Kyum-Yil Kwon, Mina Lee, Hyunjin Ju, Kayeong Im
    Journal of Movement Disorders.2020; 13(2): 142.     CrossRef
  • Peripheral Blood Inflammatory Cytokines in Idiopathic REM Sleep Behavior Disorder
    Ryul Kim, Jin‐Sun Jun, Han‐Joon Kim, Ki‐Young Jung, Yong‐Won Shin, Tae‐Won Yang, Keun Tae Kim, Tae‐Joon Kim, Jung‐Ick Byun, Jun‐Sang Sunwoo, Beomseok Jeon
    Movement Disorders.2019; 34(11): 1739.     CrossRef
  • Urinary Dysfunctions and Post-Void Residual Urine in Typical and Atypical Parkinson Diseases
    Yang-Hyun Lee, Jee-Eun Lee, Dong-Woo Ryu, Yoon-Sang Oh, Kwang-Soo Lee, Sung-Hoo Hong, Joong-Seok Kim
    Journal of Parkinson's Disease.2018; 8(1): 145.     CrossRef
  • Rasch Analysis of the Clinimetric Properties of the Korean Dizziness Handicap Inventory in Patients with Parkinson Disease
    Da-Young Lee, Hui-Jun Yang, Dong-Seok Yang, Jin-Hyuk Choi, Byoung-Soo Park, Ji-Yun Park
    Research in Vestibular Science.2018; 17(4): 152.     CrossRef
  • Clinical Characteristics of Parkinson’s Disease Developed from Essential Tremor
    Dong-Woo Ryu, Si-Hoon Lee, Yoon-Sang Oh, Jae-Young An, Jeong-Wook Park, In-Uk Song, Kwang-Soo Lee, Joong-Seok Kim
    Journal of Parkinson's Disease.2017; 7(2): 369.     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, 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
  • 20,883 View
  • 223 Download
  • 15 Citations
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

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  • 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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    Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park
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    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
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    Luz María González Huerta, Sorina Gómez González, Jaime Toral López
    Psychiatric Genetics.2021; 31(3): 95.     CrossRef
  • Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration
    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
    Heliyon.2021; : e07469.     CrossRef
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    Jeanne Feuerstein, Caroline Olvera, Michelle Fullard
    Movement Disorders Clinical Practice.2020;[Epub]     CrossRef
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    Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
    Orphanet Journal of Rare Diseases.2019;[Epub]     CrossRef
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    Brain Sciences.2018; 8(11): 194.     CrossRef
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  • Missions of <italic>Journal of Movement Disorders</italic>
    Yun Joong Kim
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Putaminal Hypointensity in the Parkinsonian Variant of Multiple System Atrophy: Simple Visual Assessment Using Susceptibility-Weighted Imaging
Jae-Hyeok Lee, Seung-Kug Baik
J Mov Disord. 2011;4(2):60-63.
DOI: https://doi.org/10.14802/jmd.11012
  • 16,923 View
  • 197 Download
  • 18 Citations
AbstractAbstract PDF
Background and Purpose

Susceptibility-weighted imaging (SWI) has been shown to be superior in its ability to demonstrate brain mineralization than other conventional MR imaging. The goal of our study was therefore to assess the frequency and extent of putaminal hypointensity in parkinsonian variant MSA using SWI.

Methods

11 patients with multiple system atrophy-parkinsonian type (MSA-p), 30 patients with Parkinson’s disease (PD), and age matched 30 controls were investigated using 3 Tesla MRI. The pattern of putaminal hypointensity was measured using a visual grading scale and scored from 0 to 3.

Results

Hemi- or bilateral putaminal hypointensity (a score of ≥ 2) and hyperintense rim were recognized in 81.8% and 54.5% of 11 MSA-p, respectively. The scores of putaminal hypointensity of MSA-p were significantly higher than other groups (p < 0.001), a score of ≥ 2 differentiated MSA-p from other groups. And all five patients with early disease stage also showed these characteristic findings.

Conclusions

SWI appears to be useful for depicting putaminal hypointensity even in early stage of MSA-p. This finding suggests that iron deposition associated putaminal degeneration can occur early in the disease process.

Citations

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  • An Updated Overview of the Magnetic Resonance Imaging of Brain Iron in Movement Disorders
    Nicola Tambasco, Pasquale Nigro, Andrea Chiappiniello, Federico Paolini Paoletti, Sara Scialpi, Simone Simoni, Pietro Chiarini, Lucilla Parnetti, Barbara Picconi
    Behavioural Neurology.2022; 2022: 1.     CrossRef
  • Automated Differentiation of Atypical Parkinsonian Syndromes Using Brain Iron Patterns in Susceptibility Weighted Imaging
    Yun Soo Kim, Jae-Hyeok Lee, Jin Kyu Gahm
    Diagnostics.2022; 12(3): 637.     CrossRef
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    American Journal of Neuroradiology.2018; 39(3): 583.     CrossRef
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Disabling Head Tremor in a Patient with DYT1 Mutation
Jae-Hyeok Lee, Dae-Seong Kim, Jae-Wook Cho, Kyung-Pil Park
J Mov Disord. 2009;2(2):86-87.
DOI: https://doi.org/10.14802/jmd.09023
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AbstractAbstract PDF

Dystonic head tremor is known to be a feature in some patients with DYT1 mutation. However, isolated tremor of the head without relevant cervical dystonia has rarely been described. We report here a patient with the three-bp GAG deletion in the DYT1 gene (904_906delGAG) who had severe head tremor in the frame of a generalized limb dystonia.

Citations

Citations to this article as recorded by  
  • Head tremor at disease onset: an ataxic phenotype of cervical dystonia
    Aristide Merola, Alok K. Dwivedi, Aasef G. Shaikh, Tamour Khan Tareen, Gustavo A. Da Prat, Marcelo A. Kauffman, Jennie Hampf, Abhimanyu Mahajan, Luca Marsili, Joseph Jankovic, Cynthia L. Comella, Brian D. Berman, Joel S. Perlmutter, Hyder A. Jinnah, Alber
    Journal of Neurology.2019; 266(8): 1844.     CrossRef
Caregiver Burden of Patients With Huntington’s Disease in South Korea
Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee
Received July 19, 2023  Accepted September 8, 2023  Published online September 11, 2023  
DOI: https://doi.org/10.14802/jmd.23134    [Epub ahead of print]
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AbstractAbstract PDFSupplementary Material
Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results
Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

JMD : Journal of Movement Disorders