A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment.

Tsuchiya, Mai; Koh, Kishin; Ishida, Aki; Ichinose, Yuta; Shindo, Kazumasa; Takiyama, Yoshihisa

Tsuchiya, Mai; Koh, Kishin; Ishida, Aki; Ichinose, Yuta; Shindo, Kazumasa; Takiyama, Yoshihisa.

Afiliação

Tsuchiya M; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.
Koh K; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.
Ishida A; Department of Rehabilitation, Yamanashi University Hospital, Japan.
Ichinose Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.
Shindo K; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.
Takiyama Y; Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan. Electronic address: ytakiyama@yamanashi.ac.jp.

J Neurol Sci ; 397: 114-116, 2019 02 15.

Article em En | MEDLINE | ID: mdl-30599301

Assuntos

Ataxia Cerebelar/genética; Códon sem Sentido; Disfunção Cognitiva/genética; Espastina/genética; Idoso; Análise Mutacional de DNA; Feminino; Humanos; Japão; Masculino; Pessoa de Meia-Idade

Palavras-chave

Cerebellar ataxia; Cognitive impairment; Nonsense mutation; SPG4; Spastin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Códon sem Sentido / Disfunção Cognitiva / Espastina Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Neurol Sci Ano de publicação: 2019 Tipo de documento: Article

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