Referenced in: none

Automatically associated channels: Cav2.1

Title: Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6).

Authors: H Sasaki, H Kojima, I Yabe, K Tashiro, T Hamada, H Sawa, H Hiraga, K Nagashima

Journal, date & volume: Acta Neuropathol., 1998 Feb , 95, 199-204

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9498057

Abstract
SCA6 is an autosomal dominant spinocerebellar ataxia (SCA) caused by a small CAG repeat expansion of the gene encoding an alpha-1A-voltage-dependent Ca channel gene subunit on chromosome 19p13. A Japanese woman with SCA6, with a 7-year history of progressive pure cerebellar ataxia, died of malignant lymphoma. Systematic neuropathological examination showed that neuronal degeneration was confined to the cerebellar Purkinje cells and, to a lesser degree, the granular cells, without any involvement of other central nervous system structures. Such pathological selectivity correlates with the localized expression of the responsible gene, and coincides with the neurological manifestation. These findings might contribute to establishing the phenotype of the SCA6 via comparison with other dominant ataxias.