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Article

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

Journal of neurology - 1 May 2015

Sasaki Masayuki, Ohba Chihiro, Iai Mizue, Hirabayashi Shinichi, Osaka Hitoshi, Hiraide Takuya, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) have been identified in families with early-onset spinocerebellar ataxia type 29 (SCA29) and late-onset SCA15, but have not been found in sporadic infantile-onset cerebellar ataxia. We examined if mutations of ITPR1 are also involved in sporadic infantile-onset SCA. Sixty patients with childhood-onset cerebellar atrophy of unknown etiology...

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Identifiers

PMID: 25794864
DOI: 10.1007/s00415-015-7705-8

Genes

ITPR1

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Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.PMID 25794864Read ↗

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