Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.
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.
Hague
Stephen
S
Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Rogaeva
Ekaterina
E
Hernandez
Dena
D
Gulick
Cindy
C
Singleton
Amanda
A
Hanson
Melissa
M
Johnson
Janel
J
Weiser
Roberto
R
Gallardo
Marisol
M
Ravina
Bernard
B
Gwinn-Hardy
Katrina
K
Crawley
Anthony
A
St  George-Hyslop
Peter H
PH
Lang
Anthony E
AE
Heutink
Peter
P
Bonifati
Vincenzo
V
Hardy
John
J
Singleton
Andrew
A
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
D000951:Antigens, Neoplasm; C446762:RS-DJ-1 antigen; D004247:DNA