MeSH Browser

MeSH Supplementary: Spinocerebellar ataxia 13
Unique ID: C537195
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537195
Entry Term(s): Autosomal dominant cerebellar ataxia with mental retardation; Cerebellar ataxia, autosomal dominant with mental retardation; SCA13 Spinocerebellar ataxia 13
Registry Number: 0
Previous Indexing: *SPINOCEREBELLAR DEGENERATIONS (2010-2015)
Heading Mapped to: Spinocerebellar Ataxias / *congenital
Frequency: 17
Note: A hereditary autosomal dominant spinocerebellar ataxia with onset typically between 20 and 40 years of age. It is characterized by progressive childhood-onset cerebellar GAIT ATAXIA associated with cerebellar DYSARTHRIA, moderate INTELLECTUAL DISABILITY. Associated with mutations in the KCNC3 gene. OMIM: 605259
Date of Entry: 2010/08/25
Revision Date: 2019/06/24

Spinocerebellar ataxia 13 MeSH Supplementary Concept Data 2023