title: Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
abstract: Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ-1 in 107 early-onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD.
authors.affiliation: Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Hague
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Cindy
authors.initials: C
authors.lastname: Gulick
authors.forename: Amanda
authors.initials: A
authors.lastname: Singleton
authors.forename: Melissa
authors.initials: M
authors.lastname: Hanson
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.forename: Roberto
authors.initials: R
authors.lastname: Weiser
authors.forename: Marisol
authors.initials: M
authors.lastname: Gallardo
authors.forename: Bernard
authors.initials: B
authors.lastname: Ravina
authors.forename: Katrina
authors.initials: K
authors.lastname: Gwinn-Hardy
authors.forename: Anthony
authors.initials: A
authors.lastname: Crawley
authors.forename: Peter H
authors.initials: PH
authors.lastname: St  George-Hyslop
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.forename: Peter
authors.initials: P
authors.lastname: Heutink
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Bonifati
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000951:Antigens, Neoplasm / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D000951:Antigens, Neoplasm; C446762:RS-DJ-1 antigen; D004247:DNA