Human genes for autosomal recessive spinocerebellar ataxia 8
Autosomal recessive spinocerebellar ataxia 8 [DOID:0111618]
An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.
Synonyms: autosomal recessive spinocerebellar ataxia 8, DOID:0111618, ARCA1, autosomal recessive ataxia, Beauce type, Autosomal recessive cerebellar ataxia type 1 ...