title: DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients.
abstract: We analyzed the DJ1 gene in a large consecutive series (N=163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified.
authors.affiliation: Medical Genetics Laboratory, Foundation IRCCS "Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena", Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Sironi
authors.forename: Paola
authors.initials: P
authors.lastname: Primignani
authors.forename: Sara
authors.initials: S
authors.lastname: Ricca
authors.forename: Sara
authors.initials: S
authors.lastname: Tunesi
authors.forename: Michela
authors.initials: M
authors.lastname: Zini
authors.forename: Silvana
authors.initials: S
authors.lastname: Tesei
authors.forename: Roberto
authors.initials: R
authors.lastname: Cilia
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Manuela
authors.initials: M
authors.lastname: Seia
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D020133:Reverse Transcriptase Polymerase Chain Reaction; D044465:White People; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1
keywords: DJ1; Early Onset Parkinson Disease; Mutation analysis