title: Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease.
abstract: Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype.
authors.affiliation: Department of Clinical Neurosciences, University of Palermo, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Savettieri
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Innocenza Claudia
authors.initials: IC
authors.lastname: Cirò Candiano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Salemi
authors.forename: Paolo
authors.initials: P
authors.lastname: Ragonese
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Valeria
authors.initials: V
authors.lastname: Terruso
authors.forename: Marco
authors.initials: M
authors.lastname: D'Amelio
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D017668:Age of Onset; D000368:Aged; D000595:Amino Acid Sequence; D000978:Antiparkinson Agents / Q000627:therapeutic use; D003072:Cognition Disorders / Q000209:etiology / Q000523:psychology; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000523:psychology; D010375:Pedigree; D010641:Phenotype; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase