Dopamine Transporter Positron Emission Tomography in Spinocerebellar Ataxias Type 1, 2, 3, and 6
Open Access
- 1 August 2005
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 62 (8) , 1280-1285
- https://doi.org/10.1001/archneur.62.8.1280
Abstract
The spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominantly inherited progressive ataxias with more than 20 identified gene loci (SCA1-8, SCA10-17, SCA19-21, SCA25, dentatorubral-pallidolluysian atrophy [DRPLA], and fibroblast growth factor 14 [FGF14]). Most mutations are expanded repeats; in 6 (SCA1-3, SCA6, SCA7, and SCA17) the mutation is a translated CAG repeat expansion coding for an elongated polyglutamine tract within the respective protein.1Keywords
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