autosomal recessive spinocerebellar ataxia 8 (DOID:0111618)
Alliance: disease page
Synonyms: ARCA1; autosomal recessive ataxia, Beauce type; Autosomal recessive cerebellar ataxia type 1; recessive ataxia of Beauce; SCAR8; SYNE1-related autosomal recessive cerebellar ataxia
Alt IDs: OMIM:610743, MESH:C565188, ORDO:88644, UMLS_CUI:C1853116
Definition: 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.