Catalog

Spinocerebellar ataxia type 30

No MMS code

Link to WHO Definition

Spinocerebellar ataxia type 30 – http://id.who.int/icd/entity/716324960

Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type 3 (ADCA type 3; see this term) characterised by pure and slowly progressive cerebellar ataxia with a mean age of onset of 52 years and described in 6 patients from one Australian family to date. The causative gene has not yet been discovered but it has been mapped to chromosome 4q34.3-q35.1.