title: Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.
abstract: Mutations in the PINK1 gene represent the second most frequent cause of early-onset Parkinson's disease (EOPD). One or two mutated alleles were also reported in some sporadic or familial patients suffering from late-onset Parkinson's disease (LOPD). We aimed at assessing the frequency of mutations in this gene in our population. We performed a sequence analysis of PINK1 in 115 patients diagnosed with Parkinson's disease (PD) from southern Italy, including 93 sporadic cases with EOPD, 9 familial cases with EOPD, and 13 familial cases with LOPD. Three known homozygous mutations (Q456X, W437X, Q126P), corresponding to a 2.6% of all cases, were found. In particular, one mutation was detected among the sporadic cases (1.0%), one mutation among the familial early-onset patients (11.1%) and one mutation among the familial late-onset patients (7.7%). In addition, we found two heterozygous mutations (E476K, R207Q) among the sporadic patients. Only one mutation (R207Q) had not been previously described. Our results assess the role played by PINK1 in EOPD in southern Italy and illustrate the existence of mutations in this gene also in the late-onset form of the disease.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Scornaienchi
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Elvira V
authors.initials: EV
authors.lastname: De Marco
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Francesca E
authors.initials: FE
authors.lastname: Rocca
authors.forename: Valentina
authors.initials: V
authors.lastname: Greco
authors.forename: Giovanni
authors.initials: G
authors.lastname: Provenzano
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Nicoletti
authors.forename: Carmela
authors.initials: C
authors.lastname: Colica
authors.forename: Antonino
authors.initials: A
authors.lastname: Uncini
authors.forename: Maria
authors.initials: M
authors.lastname: Salsone
authors.forename: Fabiana
authors.initials: F
authors.lastname: Novellino
authors.forename: Maurizio
authors.initials: M
authors.lastname: Morelli
authors.forename: Gennarina
authors.initials: G
authors.lastname: Arabia
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics*; D055815:Young Adult; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase