cerebellar ataxia type 43

Term ID

DOID:0111745

Synonyms

• SCA43

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/27583304

References

• MIM:617018
• ORDO:497764

Ontology

Human Disease   ( DOID:0111745 )