spinocerebellar ataxia 31; spinocerebellar ataxia Holmes type (SCA31)

Genetics

• autosomal dominant
• caused by a 2.5-3.8 kb insertion containing pentanucleotide repeats including (TGGAA)n within an intron of the BEAN gene

Clinical manifestations

• features of spinocerebellar ataxia

More general terms

• spinocerebellar ataxia (SCA)

Database

• OMIM: https://mirror.omim.org/entry/117210