title: Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.
abstract: The spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders linked to more than 20 genetic loci. Most often, these diseases are caused by expansion of triplet repeats encoding polyglutamine (polyQ) tracts. The phenotype is variable and can cause a disease that overlaps clinically with Parkinson's disease (PD). l-Dopa-responsive parkinsonism with minimal cerebellar deficits has been described in SCA2 and SCA3. In order to define if mutation at these loci is a common cause of clinically defined parkinsonism we typed the SCA-2 and SCA-3 repeats for expansion in a series of 280 patients diagnosed with PD or parkinsonism. We identified one pathogenic expansion in SCA-2 in a North American family with autosomal dominant parkinsonism.
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A100, MSC 3707, 35 Lincoln Drive, Bethesda, MD 20892, USA.
authors.forename: Javier
authors.initials: J
authors.lastname: Simon-Sanchez
authors.forename: Melissa
authors.initials: M
authors.lastname: Hanson
authors.forename: Amanda
authors.initials: A
authors.lastname: Singleton
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Aideen
authors.initials: A
authors.lastname: McInerney
authors.forename: Robert
authors.initials: R
authors.lastname: Nussbaum
authors.forename: John
authors.initials: J
authors.lastname: Werner
authors.forename: Marisol
authors.initials: M
authors.lastname: Gallardo
authors.forename: Roberto
authors.initials: R
authors.lastname: Weiser
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.forename: Jordi
authors.initials: J
authors.lastname: Clarimon
mesh_terms: D000293:Adolescent; D000368:Aged; D000369:Aged, 80 and over; D000067699:Ataxin-3; D000067528:Ataxins; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D012097:Repressor Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014202:Tremor / Q000503:physiopathology
chemical_list: D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; D004247:DNA; C092341:ATXN3 protein, human; D000067699:Ataxin-3