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Spinocerebellar ataxia type 6 in relation to CAG repeat length
Author(s) -
Kaseda Y.,
Kawakami H.,
Matsuyama Z.,
Kumagai R.,
Toji M.,
Komure O.,
Nishimura M.,
Izumi Y.,
Udaka F.,
Kameyama M.,
Nishio T.,
Sunohara N.,
Kuroda Y.,
Nakamura S.
Publication year - 1999
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1999.tb07348.x
Subject(s) - dysarthria , spinocerebellar ataxia , gait ataxia , ataxia , nystagmus , medicine , trinucleotide repeat expansion , cerebellar ataxia , psychology , audiology , biology , psychiatry , genetics , allele , gene
Objective – The purpose of the present study was to assess the relationship between clinical characteristics of spinocerebellar ataxia type 6 (SCA6) and CAG repeat length. Materials and methods – We examined clinical symptoms of 54 patients with SCA6. CAG repeat length was compared among subgroups divided by clinical manifestations. Results – The major symptom was progressive cerebellar ataxia. Truncal or limb ataxia, dysarthria, and nystagmus were observed in more than 80% of the patients. In analysis of CAG repeat length in patients with different types of nystagmus, CAG repeat length was the longest when both upbeat and downbeat nystagmus existed ( P <0.01). In addition, CAG repeat length was longer when the initial symptom was ataxic gait and was shorter when the initial symptom was dysarthria or ocular symptom ( P <0.05). Conclusion – Clinical features of SCA6 might be influenced by the length of abnormal CAG repeat.