spinocerebellar ataxia type 8R (SCAR8, autosomal recessive cerebellar ataxia type 1/8, recessive ataxia of Beauce)

Pathology

• degeneration of the cerebellum
• variable involvement of the brainstem & spinal cord

Genetics

• asutosomal recessive
• associated with defects in SYNE1

Clinical manifestations

• progressive incoordination of gait & often poor coordination of hands, speech & eye movements

More general terms

• spinocerebellar ataxia (SCA)

Database

• OMIM: https://mirror.omim.org/entry/610743