title: Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
abstract: The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified.
authors.affiliation: INSERM U289, Neurologie et Thérapeutique Expérimentale, Hôpital de la Pitié-Salpêtrière, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Ibáñez
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: V
authors.initials: V
authors.lastname: Bonifati
authors.forename: E
authors.initials: E
authors.lastname: Lohmann
authors.forename: S
authors.initials: S
authors.lastname: Thobois
authors.forename: P
authors.initials: P
authors.lastname: Pollak
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: P
authors.initials: P
authors.lastname: Heutink
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D000071617:Protein Deglycase DJ-1
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1