| Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan. | |
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MedLine Citation:
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PMID: 21088341 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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OBJECTIVE: The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. This is the first report on the prevalence of ADCA subtypes in Aomori, Japan. METHODS AND PATIENTS: Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. For only the SCA2 patients (n = 8), the magnetic resonance imaging (MRI) data were analyzed in detail. RESULTS: Spinocerebellar ataxia (SCA) type 6 was often observed (77.7% of cases), with SCA2 (10.6% of cases) being the next most common form. In contrast, only one of the eighty patients had SCA1. Among the 15 sporadic SCA patients, genetic mutations for SCA2, SCA6, SCA17, and SCA31 were identified, indicating that ADCAs should be considered in sporadic cases of ataxia. Furthermore, in SCA2 cases, brainstem atrophy, pontine midline linear hyperintensity, and atrophy of the frontal lobes were frequently observed using MRI. CONCLUSION: The present data indicate that the prevalence of ADCA in Aomori differs from other prefectures in the Tohoku District. MRI findings are very similar between SCA2 and multiple system atrophy (MSA), and thus care must be taken to prevent the misdiagnosis of sporadic SCA2 as MSA. |
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Authors:
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Yukiko Yamamoto-Watanabe; Mitsunori Watanabe; Motofumi Hikichi; Yoshio Ikeda; Mandy Jackson; Yasuhito Wakasaya; Etsuro Matsubara; Takeshi Kawarabayashi; Kazuya Kannari; Mikio Shoji |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2010-11-15 |
Journal Detail:
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Title: Internal medicine (Tokyo, Japan) Volume: 49 ISSN: 1349-7235 ISO Abbreviation: Intern. Med. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-11-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9204241 Medline TA: Intern Med Country: Japan |
Other Details:
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Languages: eng Pagination: 2409-14 Citation Subset: IM |
Affiliation:
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Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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