title: Mutation at the SCA17 locus is not a common cause of parkinsonism.
abstract: 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.
authors.affiliation: Molecular Genetics Section, National Institute on Aging, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Melissa
authors.initials: M
authors.lastname: Hanson
authors.forename: Amanda
authors.initials: A
authors.lastname: Singleton
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Jason
authors.initials: J
authors.lastname: Freeman
authors.forename: Bernard
authors.initials: B
authors.lastname: Ravina
authors.forename: Dana
authors.initials: D
authors.lastname: Doheny
authors.forename: Marisol
authors.initials: M
authors.lastname: Gallardo
authors.forename: Roberto
authors.initials: R
authors.lastname: Weiser
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: 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
chemical_list: D035181:TATA-Box Binding Protein