KMDS
E-submission
Search
- Page Path
- HOME > Search
Review Article
- Hereditary Cerebellar Ataxias: A Korean Perspective
- Ji Sun Kim, Jin Whan Cho
- J Mov Disord. 2015;8(2):67-75. Published online May 31, 2015
- DOI: https://doi.org/10.14802/jmd.15006
- 17,149 View
- 237 Download
- 16 Web of Science
- 15 Crossref
-
Abstract
PDF - Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.
-
Citations
Citations to this article as recorded by
- MRl and MRS hints for the differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia type II
Hung-Chieh Chen, Li-Hua Lee, Jiing-Feng Lirng, Bing-wen Soong
Heliyon.2024; 10(7): e29265. CrossRef - Discovery of a de novo ITPR1 missense mutation in a patient with early‐onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29
Jae In Lee, Ja Young Choi, Shin‐Seung Yang
Molecular Genetics & Genomic Medicine.2024;[Epub] CrossRef - Placebo response in degenerative cerebellar ataxias: a descriptive review of randomized, placebo-controlled trials
Ji-Hyun Choi, Chaewon Shin, Han-Joon Kim, Beomseok Jeon
Journal of Neurology.2022; 269(1): 62. CrossRef - New Perspectives of Gene Therapy on Polyglutamine Spinocerebellar Ataxias: From Molecular Targets to Novel Nanovectors
Fabiola V. Borbolla-Jiménez, María Luisa Del Prado-Audelo, Bulmaro Cisneros, Isaac H. Caballero-Florán, Gerardo Leyva-Gómez, Jonathan J. Magaña
Pharmaceutics.2021; 13(7): 1018. CrossRef - Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
Hye-Rim Shin, Jangsup Moon, Woo-Jin Lee, Han Sang Lee, Eun Young Kim, Seoyi Shin, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Ki-Young Jung, Sang Kun Lee, Kon Chu
Scientific Reports.2021;[Epub] CrossRef - Essential tremor: the most common form of cerebellar degeneration?
Elan D. Louis, Phyllis L. Faust
Cerebellum & Ataxias.2020;[Epub] CrossRef - Identifying SYNE1 ataxia and extending the mutational spectrum in Korea
Ji Sun Kim, Ah Reum Kim, Jinyoung Youn, Chung Lee, Nam-Soon Kim, Woong-Yang Park, Jong Kyu Park, Nayoung K.D. Kim, Jin Whan Cho
Parkinsonism & Related Disorders.2019; 58: 74. CrossRef - Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
Hiroya Naruse, Takashi Matsukawa, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Hiroki Takano, Jun Goto, Tatsushi Toda, Shoji Tsuji
neurogenetics.2019; 20(2): 65. CrossRef - Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin
Brain and Behavior.2019;[Epub] CrossRef - Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias
Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Cho
Scientific Reports.2019;[Epub] CrossRef - The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population
Ji Sun Kim, Soonwook Kwon, Chang-Seok Ki, Jinyoung Youn, Jin Whan Cho
Journal of Clinical Neurology.2018; 14(3): 374. CrossRef - Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese
Fernanda Aparecida Maggi, Pedro Braga-Neto, Hsin Fen Chien, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Mariana Callil Voos, José Luiz Pedroso, Orlando Graziani Povoas Barsottini
Arquivos de Neuro-Psiquiatria.2018; 76(10): 674. CrossRef - The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia
Woo-Jin Lee, Jangsup Moon, Tae-Joon Kim, Jin-Sun Jun, Han Sang Lee, Young Jin Ryu, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Ki-Young Jung, Manho Kim, Sang Kun Lee, Kon Chu
Journal of Neuroimmunology.2017; 309: 82. CrossRef - Genetic Variants Associated with Episodic Ataxia in Korea
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin, Dae-Seong Kim, Kyung-Pil Park, Hyang-Sook Kim, Jae-Hwan Choi
Scientific Reports.2017;[Epub] CrossRef - Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report
Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Kim
Journal of Clinical Neurology.2016; 12(1): 126. CrossRef
- MRl and MRS hints for the differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia type II
First
Prev
