title: Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria.
abstract: Parkinson's disease (PD) is the most common form of degenerative Parkinsonism with a prevalence of 1% of those older than 65 years. PD is characterized by the combination of slowness of movement (bradykinesia), muscular rigidity, resting tremor, and postural instability. Recently, using a genome-wide linkage analysis and exome sequencing, a group identified a candidate gene (CHCHD2) in a large Japanese family with autosomal dominant Parkinson's disease. The aim of this study was to evaluate the presence of CHCHD2 mutations in a cohort of 165 familial patients with clinically diagnosed PD and 200 control subjects from South Italy. No mutations in CHCHD2 were found in our 165 PD patients. This result suggests that CHCHD2 mutations might not be the common cause of PD in South Italy.
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy. Electronic address: monicg_2002@yahoo.it.
authors.forename: Monica
authors.initials: M
authors.lastname: Gagliardi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Iannello
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Carmela
authors.initials: C
authors.lastname: Colica
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.affiliation: Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D015331:Cohort Studies; D004268:DNA-Binding Proteins; D055106:Genome-Wide Association Study; D006801:Humans; D007558:Italy; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
keywords: CHCHD2 gene; Parkinson's disease