Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disorder
characterized by ataxia, dysarthria and progressive bulbar dysfunction. The SCA 1 gene
which maps to the short arm of chromosome 6 has been isolated using a positional cloning
approach. The SCA1 transcript is 10660 bases and encodes a novel protein, ataxin-1, with a
predicted molecular weight of 87 kDa. Expansion of a CAG repeat localized near the amino
terminus of ataxin-1 has been found to be the mutational mechanism in SCA1. This CAG …
characterized by ataxia, dysarthria and progressive bulbar dysfunction. The SCA 1 gene
which maps to the short arm of chromosome 6 has been isolated using a positional cloning
approach. The SCA1 transcript is 10660 bases and encodes a novel protein, ataxin-1, with a
predicted molecular weight of 87 kDa. Expansion of a CAG repeat localized near the amino
terminus of ataxin-1 has been found to be the mutational mechanism in SCA1. This CAG …