title: PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
abstract: We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good response to levodopa, early fluctuations and dyskinesias, and psychiatric symptoms. The mother, heterozygote for W437X mutation, was affected by Parkinson's disease and 3 further relatives were reported affected, according to an autosomal dominant transmission.
authors.affiliation: Department of Neurological Sciences, Federico II University, Naples, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Giampiero
authors.initials: G
authors.lastname: Volpe
authors.forename: Anna
authors.initials: A
authors.lastname: De Rosa
authors.forename: Andrea
authors.initials: A
authors.lastname: Varrone
authors.forename: Roberta
authors.initials: R
authors.lastname: Marongiu
authors.forename: Pietro
authors.initials: P
authors.lastname: Mancini
authors.forename: Elena
authors.initials: E
authors.lastname: Salvatore
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
mesh_terms: D017668:Age of Onset; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase