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The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients.
MedLine Citation:
PMID:  22753339     Owner:  NLM     Status:  Publisher    
Spinocerebellar ataxia 36 is caused by the expansion of the intronic GGCCTG hexanucleotide repeat in NOP56. The original article describing this condition demonstrated that patients with spinocerebellar ataxia 36 present with tongue atrophy, a finding that had not been seen in previous types of spinocerebellar ataxias. A total of 2121 patients with clinically diagnosed spinocerebellar ataxia participated in the study. We screened our patient samples for spinocerebellar ataxia 36 using the repeat-primed polymerase chain reaction method and also determined the clinical features of spinocerebellar ataxia 36. Of the ataxia cases examined, 12 were identified as spinocerebellar ataxia 36. Of these, 7 cases (6 families) were autosomal dominant, 4 cases (three families) had a positive family history but were not autosomal dominant, and 1 case was sporadic. The average age of onset was 51.7 years, and disease progression was slow. The main symptoms and signs of disease included ataxia, dysarthria, and hyperreflexia. Approximately half the affected patients demonstrated nystagmus, bulging eyes, and a positive pathological reflex, although dysphagia, tongue atrophy, and hearing loss were rare. Moreover, the observed atrophy of the cerebellum and brain stem was not severe. The patients identified in this study were concentrated in western Japan. The frequency of spinocerebellar ataxia 36 was approximately 1.2% in the autosomal dominant group, and the age of onset for this condition was later in comparison with other spinocerebellar ataxia subtypes. © 2012 Movement Disorder Society.
Katsunobu Sugihara; Hirofumi Maruyama; Hiroyuki Morino; Ryosuke Miyamoto; Hiroki Ueno; Masayasu Matsumoto; Ryuji Kaji; Hiroshi Kitaguchi; Motohiro Yukitake; Yasuto Higashi; Kazuto Nishinaka; Masaya Oda; Yuishin Izumi; Hideshi Kawakami
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-2
Journal Detail:
Title:  Movement disorders : official journal of the Movement Disorder Society     Volume:  -     ISSN:  1531-8257     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8610688     Medline TA:  Mov Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Movement Disorder Society.
Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
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