Article
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism.
Neurology - 21 Apr 2009
Kim J-Y, Kim S Y, Kim J-M, Kim Y K, Yoon K-Y, Kim J Y, Lee B C, Kim J S, Paek S H, Park S S, Kim S E, Jeon B S
Abstract excerpt
OBJECTIVE: To investigate the role of spinocerebellar ataxia type 17 (SCA17) in the development of parkinsonism. METHOD: We screened 1,155 parkinsonian patients (931 with Parkinson disease and 224 with multiple system atrophy) and 400 normal subjects for SCA17. 99mTc-TRODAT-1 SPECT was used to evaluate the striatal dopamine transporter (DAT) status. RESULTS: Trinucleotide expansion in the SCA17 gene was found in...
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