Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

ABSTRACT:

Background

Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family.

Methods and results

Exome sequencing w

SUBMITTER: Huang L 

PROVIDER: S-EPMC3545966 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature