Human genes for cerebellar ataxia type 43
Cerebellar ataxia type 43 [DOID:0111745]
An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.
Synonyms: cerebellar ataxia type 43, DOID:0111745, SCA43