spinocerebellar ataxia, autosomal recessive 1; spinocerebellar ataxia, non-Friedreich type 1 (SCAR1)

Genetics

• chromosome 9q34
• autosomal recessive

Clinical manifestations

• features of spinocerebellar ataxia
• juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy
• oculomotor apraxia is common, but inconsistent

Laboratory

• increased serum alpha-fetoprotein

More general terms

• spinocerebellar ataxia, autosomal recessive

Database

• OMIM: https://mirror.omim.org/entry/606002
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=85506