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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-03-21

AUTHORS

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

ABSTRACT

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 and their families were examined by whole-exome sequencing. We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia. Patients displayed nystagmus, tremor, and hypotonia from very early infancy. Nonprogressive ataxia, motor delay, and mild cognitive deficits were common clinical findings. Brain magnetic resonance imaging revealed slowly progressive cerebellar atrophy. ITPR1 missense mutations cause infantile-onset cerebellar ataxia. ITPR1-related SCA includes sporadic infantile-onset cerebellar ataxia as well as SCA15 and SCA29. More... »

PAGES

1278-1284

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-015-7705-8

DOI

http://dx.doi.org/10.1007/s00415-015-7705-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1019801632

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25794864


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