Mutation at the SCA17 locus is not a common cause of parkinsonism.
Spinocerebellar ataxia (SCA) 17 is a dominant, progressive, neurodegenerative disorder. The disease is caused by a triplet repeat expansion mutation within TATA-binding protein (TBP). Ataxia, dementia, parkinsonism and dystonia are common features. We have previously shown in several pedigrees that SCA-2 and SCA-3 can cause both parkinsonism and typical Parkinson's disease in the absence of prominent ataxia; a finding which has been confirmed by others. Given these previous findings and the description of parkinsonism as a common feature of SCA-17 we examined this locus in a series of probands from families with 2 or more members affected with parkinsonism (n=51) and a group of sporadic parkinsonism patients (n=59). We did not find any repeat sizes in the pathogenic range. The repeats we observed ranged from 29 to 41 (mean 36.8; median 37). We conclude that SCA-17 repeat expansion mutations are not a common cause of familial parkinsonism.
Hernandez
Dena
D
Molecular Genetics Section, National Institute on Aging, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
Hanson
Melissa
M
Singleton
Amanda
A
Gwinn-Hardy
Katrina
K
Freeman
Jason
J
Ravina
Bernard
B
Doheny
Dana
D
Gallardo
Marisol
M
Weiser
Roberto
R
Hardy
John
J
Singleton
Andrew
A
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005787:Gene Frequency; D006801:Humans; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
D035181:TATA-Box Binding Protein