Journal of Movement Disorders

Original Articles

Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India: Madathum Kuzhiyil Farsana, Vikram V Holla, Prashant Phulpagar, Nitish Kamble, Babylakshmi Muthusamy, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2026;19(1):19-30. Published online August 19, 2025; DOI: https://doi.org/10.14802/jmd.25132

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Abstract PDF: Objective
Studies outlining the genetic architecture of Parkinson’s disease in India are sparse, and juvenile parkinsonism is underrepresented in the literature. The objective was to study the clinical, therapeutic, and genetic profiles of patients with juvenile parkinsonism and to correlate their phenotypic–genotypic characteristics.
Methods
This retrospective chart review was conducted in patients with suspected genetically mediated juvenile parkinsonism (onset ≤21 years) who underwent genetic testing at a tertiary care center in India from 2015–2024. The available phenotypic–genotypic characteristics were evaluated and compared between Gene (+) and Gene (-) patients.
Results
Forty patients (22 males, 55.0%) with juvenile parkinsonism were included, with mean ages at onset and presentation of 15.85±4.96 years and 26.37±10.11 years, respectively. The mean duration of illness was 10.43±10.49 years. A positive family history was present in 40.0% of the participants, and consanguinity was present in 45%. Bradykinesia was the most common motor symptom (95.0%), and cognitive impairment was the most common nonmotor symptom (17.5%). Pathogenic/likely pathogenic variants were identified in 27 patients (67.5%), with variants in PRKN being the most common (n=8 patients), followed by those in PLA2G6 (n=7 patients). Gene (+) patients had significantly more severe disease with a better levodopa response and more frequent familial consanguinity, oculomotor abnormalities, motor fluctuations, and dyskinesia. Compared with PARK-PRKN patients, PARK-PLA2G6 patients had significantly more dystonia, gaze restriction, and pyramidal signs and more severe disease at presentation, with a lower levodopa equivalent daily dose and fewer motor fluctuations.
Conclusion
More than two-thirds (67.5%) of the juvenile parkinsonism patients in our cohort had an underlying monogenic cause. PARK-PRKN, PARK-PLA2G6, and PARK-SYNJ1 are the common causes of genetically mediated juvenile parkinsonism in India.

Subtyping of Parkinson’s Disease by Longitudinal Trajectories of Levodopa Equivalent Daily Dose: Young-gun Lee, Kyoungwon Baik, Mincheol Park, Sung Woo Kang, So Hoon Yoon; J Mov Disord. 2025;18(4):317-326. Published online July 18, 2025; DOI: https://doi.org/10.14802/jmd.25099

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Abstract PDF Supplementary Material: Objective
Clinical heterogeneity exists in the optimal timing and dosage of symptomatic treatments for Parkinson’s disease (PD). This study aimed to cluster PD patients on the basis of longitudinal trajectories of levodopa equivalent daily dose (LEDD) and evaluate the clinical features and progression associated with these clusters.
Methods
From the Parkinson’s Progression Markers Initiative database, we enrolled 301 PD patients who were followed up for at least 3 years after the initiation of antiparkinsonian medications. On the basis of the longitudinal trajectories of the LEDD increment, the participants were classified into three clusters: slow-increment, initial-increment, and rapid-increment. The outcomes were initial and longitudinal changes in motor phenotype, on-time motor symptoms, and the efficacy of antiparkinsonian medications.
Results
The initial-increment cluster exhibited the greatest symptomatic improvements following the administration of higher doses of LEDD, although the motor improvement per unit of LEDD was comparable across clusters. Longitudinally, motor phenotypes changed rapidly in the initial-increment cluster. The initial-increment cluster showed continuous worsening of on-time motor symptoms, with limited LEDD efficacy. In contrast, the rapid-increment cluster exhibited stable on-time motor symptoms, whereas the efficacy of antiparkinsonian medications declined over time. The risk of disability related to walking and balance milestones and motor complications was twice as high in the initial-increment and rapid-increment clusters than in the slow-increment cluster.
Conclusion
Heterogeneity is noted in the increase in the use of antiparkinsonian medications, which is driven by changes in motor phenotype, medication efficacy, and the occurrence of PD-relevant milestones. Subtyping patients on the basis of LEDD trajectories may provide insight into clinical heterogeneity for future research on individualized treatment strategies for patients with PD.

Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1: Yingji Li, Yang Liu, Rongfei Wang, Ran Ao, Feng Xiang, Xu Zhang, Xiangqing Wang, Shengyuan Yu; J Mov Disord. 2024;17(3):282-293. Published online April 11, 2024; DOI: https://doi.org/10.14802/jmd.23145

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Objective
Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying N-acetyl-α-neuraminidase-1 (NEU1) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.
Methods
First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were conducted for several NEU1 variants, and a sialidase activity assay was performed. Third, previous NEU1 variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed.
Results
We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by a sialidase activity assay. Cherry-red spots were more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal electroencephalographies and visual evoked potentials had a relatively early age of onset, whereas patients with myoclonus had a late onset.
Conclusion
Changes in flexibility and local polar contacts may be indicators of NEU1 pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics.

Citations

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Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pabl
Epilepsia Open.2026;[Epub] CrossRef
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis
Mei-Ling Peng, Siu-Fung Chau, Jia-Ying Chien, Peng-Yeong Woon, Yu-Chen Chen, Wai-Man Cheang, Hsien-Yang Tsai, Shun-Ping Huang
Genes.2025; 16(2): 151. CrossRef

Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect: Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouider; J Mov Disord. 2024;17(2):158-170. Published online January 30, 2024; DOI: https://doi.org/10.14802/jmd.23178

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Abstract PDF

Objective
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disorder encompassing several phenotypes with various motor and cognitive deficits. We aimed to study motor and cognitive characteristics across PSP phenotypes and to assess the influence of apolipoprotein E (APOE) gene variants on PSP phenotypic expression.
Methods
In this 20-year cross-sectional study, we retrospectively reviewed the charts of all patients classified as PSP patients and recategorized them according to phenotype using the Movement Disorder Society criteria (2017). Phenotypes were divided into three subgroups, Richardson’s syndrome (PSP-RS), PSP-cortical (PSP with predominant frontal presentation [PSP-F] + PSP with predominant speech/language disorder [PSP-SL] + PSP with predominant corticobasal syndrome [PSP-CBS]) and PSP-subcortical (PSP with predominant parkinsonism [PSP-P] + PSP with progressive gait freezing [PSP-PGF] + PSP with predominant postural instability [PSP-PI] + PSP with predominant ocular motor dysfunction [PSP-OM] + PSP with cerebellar ataxia [PSP-C] + PSP with primary lateral sclerosis [PSP-PLS]), based on clinical presentation during the first 3 years after symptom onset, which defines the early disease stage. Clinical and neuropsychological assessment data were collected. Genotyping of APOE was performed using restriction fragment length polymorphism polymerase chain reaction and verified by Sanger sequencing.
Results
We included 112 PSP patients comprising 10 phenotypes classified into 48 PSP-RS, 34 PSP-cortical (PSP-CBS, 17.6%; PSP-F, 9.4%; PSP-SL, 8.2%) and 30 PSP-subcortical (PSP-P, 11.6%; PSP-PI, 8%; PSP-OM, 2.7%; PSP-PGF, 1.8%; PSP-C, 1.8%; PSP-PLS, 0.9%) subgroups. PSP-RS patients were older at disease onset (p = 0.009) and had more akinetic-rigid and levodopa-resistant parkinsonism (p = 0.006), while PSP-cortical patients had more tremors and asymmetric and/or levodopa-responsive parkinsonism (p = 0.025). Cognitive domains were significantly less altered in the PSP-subcortical subgroup. Overall, PSP-APOEε4 carriers developed parkinsonism earlier (p = 0.038), had earlier oculomotor dysfunction (p = 0.052) and had more altered cognitive profiles. The APOEε4 allele was also associated with a younger age of parkinsonism onset in the PSP-RS phenotype group (p = 0.026).
Conclusion
This study demonstrated the wide phenotypic spectrum of PSP among Tunisians. Disease onset and akinetic-rigid and levodopa-resistant parkinsonism were the hallmarks of the PSP-RS phenotype, while milder cognitive impairment was characteristic of the PSP-subcortical subgroup. The APOEε4 allele was associated with earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.

Citations

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The Spectrum of Cognitive Impairment in Atypical Parkinsonism Syndromes: A Comprehensive Review of Current Understanding and Research
Kurt A. Jellinger
Diseases.2025; 13(2): 39. CrossRef
Pathomechanisms of neuropsychiatric disturbances in atypical parkinsonian disorders: a current view
Kurt A. Jellinger
Journal of Neural Transmission.2025; 132(4): 495. CrossRef
A possible role of Apolipoprotein E in Idiopathic Generalized Epilepsy
Maria Kabbage, Saloua Mrabet, Maha Mounadi, Alya Gharbi, Amal Atrous, Istabrak Abdelkefi, Amina Gargouri-Berrechid, Riadh Gouider
Epilepsy & Behavior.2025; 172: 110554. CrossRef
Comorbid pathologies and their impact on progressive supranuclear palsy: current view
Kurt A. Jellinger
Journal of Neural Transmission.2025;[Epub] CrossRef
Motor and non-motor features in progressive supranuclear palsy: the impact of microtubule associated protein tau haplotypes among a Tunisian cohort
Youssef Abida, Ikram Sghaier, Amira Souissi, Alya Gharbi, Amina Nasri, Oumeyma Belkehia, Imen Kacem, Amina Gargouri-Berrachid, Riadh Gouider
Journal of Neural Transmission.2025;[Epub] CrossRef
Differences in neuropsychological performance across clinical variants of progressive supranuclear palsy
Elizabeth A. Boots, Stephen D. Weigand, Nha Trang Thu Pham, Farwa Ali, Heather M. Clark, Julie A. Stierwalt, Hugo Botha, Sarah M. Boland, Yehkyoung C. Stephens, Keith A. Josephs, Jennifer L. Whitwell, Mary M. Machulda
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Progressive Supranuclear Palsy—A Global Review
Prashanth Lingappa Kukkle, Rosy Neupane, Alexandar Pantelyat, Anne‐Marie Wills, Ed Jabbari, Elise G.P. Dopper, Gabor G. Kovacs, Gunther Hoglinger, Ikuko Aiba, Irene Litvan, Jacky Ganguly, Jennifer L. Whitwell, Jinghong Ma, Kigocha Okeng’O, Ryuji Skakibara
Movement Disorders Clinical Practice.2025;[Epub] CrossRef
Clinical and molecular predictors of survival among atypical parkinsonian syndromes in a North African tertiary referral center
Ikram Sghaier, Amina Nasri, Amal Atrous, Youssef Abida, Alya Gharbi, Amira Souissi, Saloua Mrabet, Mouna Ben Djebara, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider
Journal of the Neurological Sciences.2024; 464: 123155. CrossRef

Prospective Characterization of Cognitive Function in Typical and ‘Brainstem Predominant’Progressive Supranuclear Palsy Phenotypes: Young-Eun C Lee, David R Williams, Jacqueline F I Anderson; J Mov Disord. 2018;11(2):72-77. Published online May 30, 2018; DOI: https://doi.org/10.14802/jmd.17067

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Abstract PDF

Objective
Clinicopathological studies over the last decade have broadened the clinical spectrum of progressive supranuclear palsy (PSP) to include several distinct clinical syndromes. We examined the cognitive profiles of patients with PSP-Richardson’s syndrome (PSP-RS) and two atypical ‘brainstem predominant’ PSP phenotypes (PSP-parkinsonism, PSP-P; and PSP-pure akinesia with gait freezing, PSP-PAGF) using a comprehensive neuropsychological battery.
Methods
Fourteen patients diagnosed as PSP-RS, three patients with PSP-P and four patients with PSP-PAGF were assessed using a comprehensive battery of neuropsychological tests.
Results
The typical PSP-RS subgroup demonstrated greater impairments in processing speed [t(19) = -4.10, p = 0.001 (d =1.66)] and executive function [t(19) = -2.63, p = 0.02 (d = 1.20)] compared to the ‘brainstem predominant’ PSP phenotype.
Conclusion
This is the first prospective study to demonstrate that PSP-RS and ‘brainstem predominant’ PSP phenotypes can be differentiated on cognitive grounds. These differences correspond with variations in pathological profiles reported in the literature.

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Rapid Cognitive Deterioration in Progressive Supranuclear Palsy: A 1‐Year Follow‐Up Study
Xin‐Yi Li, Yu‐Jie Yang, Fang‐Yang Jiao, Gan Tang, Ming‐Jia Chen, Rui‐Xin Yao, Yi‐Xin Zhao, Xiao‐Niu Liang, Bo Shen, Yi‐Min Sun, Jian‐Jun Wu, Jian Wang, Feng‐Tao Liu
Movement Disorders Clinical Practice.2025; 12(4): 475. CrossRef
A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy
Sonja Porsche, Martin Klietz, Stephan Greten, Ines A. Piot, Ida Jensen, Florian Wegner, Lan Ye, Lea Krey, Matthias Höllerhage, Monika Pötter‐Nerger, Molly Zeitzschel, Keno Hagena, Jan Kassubek, Patrick Süß, Jürgen Winkler, Daniela Berg, Steffen Paschen, L
Movement Disorders Clinical Practice.2025; 12(6): 764. CrossRef
The Spectrum of Cognitive Impairment in Atypical Parkinsonism Syndromes: A Comprehensive Review of Current Understanding and Research
Kurt A. Jellinger
Diseases.2025; 13(2): 39. CrossRef
Pathomechanisms of cognitive impairment in progressive supranuclear palsy
Kurt A. Jellinger
Journal of Neural Transmission.2023; 130(4): 481. CrossRef
Differential Diagnosis of Rare Subtypes of Progressive Supranuclear Palsy and PSP-Like Syndromes—Infrequent Manifestations of the Most Common Form of Atypical Parkinsonism
Patrycja Krzosek, Natalia Madetko, Anna Migda, Bartosz Migda, Dominika Jaguś, Piotr Alster
Frontiers in Aging Neuroscience.2022;[Epub] CrossRef
Clinical Spectrum of Tauopathies
Nahid Olfati, Ali Shoeibi, Irene Litvan
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Neuropsychological assessment could distinguish among different clinical phenotypes of progressive supranuclear palsy: A Machine Learning approach
Maria Grazia Vaccaro, Alessia Sarica, Andrea Quattrone, Carmelina Chiriaco, Maria Salsone, Maurizio Morelli, Aldo Quattrone
Journal of Neuropsychology.2021; 15(3): 301. CrossRef
“Parkinson’s disease” on the way to progressive supranuclear palsy: a review on PSP-parkinsonism
Ján Necpál, Miroslav Borsek, Bibiána Jeleňová
Neurological Sciences.2021; 42(12): 4927. CrossRef
The Progressive Supranuclear Palsy: Past and Present Aspects
Theodore P. Parthimos, Kleopatra H. Schulpis
Clinical Gerontologist.2020; 43(2): 155. CrossRef
Progressive Supranuclear Palsy—Parkinsonism Predominant (PSP-P)—A Clinical Challenge at the Boundaries of PSP and Parkinson's Disease (PD)
Piotr Alster, Natalia Madetko, Dariusz Koziorowski, Andrzej Friedman
Frontiers in Neurology.2020;[Epub] 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

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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.

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Very Late‐Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case
Jussi O.T. Sipilä, Aki Hietaharju, Anna Maija Saukkonen, Laura Kytövuori, Liisu Balk, Valtteri Kaasinen, Tuomas Rauramaa
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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
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The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
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
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Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
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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
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
Atypical Pantothenate Kinase-Associated Neurodegeneration with variable phenotypes in an Egyptian family
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
Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
Jeanne Feuerstein, Caroline Olvera, Michelle Fullard
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Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
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
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Jong Kyu Park, Jinyoung Youn, Jin Whan Cho
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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
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Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature
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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
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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

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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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Case Report

A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction: Seunguk Jung, Jong Won Chung, Ji Young Yun, Han-Joon Kim, Beom Seok Jeon; J Mov Disord. 2009;2(2):91-94.; DOI: https://doi.org/10.14802/jmd.09025

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Abstract PDF

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

Citations

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