Spinocerebellar ataxia with mental retardation (SCA13).

Abstract

Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family.

• Authors: Giovanni Stevanin, Alexandra Durr, Nawal Benammar, Alexis Brice
• Journal: Cerebellum (London, England) (Cerebellum) Vol. 4 Issue 1 Pg. 43-6 ( 2005) ISSN: 1473-4222 [Print] United States
• PMID: 15895558 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 19
• DNA Mutational Analysis (methods)
• Genetic Linkage
• Humans
• Intellectual Disability (complications, genetics)
• Magnetic Resonance Imaging (methods)
• Pedigree
• Phenotype
• Spinocerebellar Ataxias (classification, complications, genetics)