title: DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
abstract: DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early-onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ-1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Savettieri
authors.forename: Pierfrancesco
authors.initials: P
authors.lastname: Pugliese
authors.forename: Marco
authors.initials: M
authors.lastname: D'Amelio
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Paolo
authors.initials: P
authors.lastname: Ragonese
authors.forename: Vincenzo
authors.initials: V
authors.lastname: La Bella
authors.forename: Tommaso
authors.initials: T
authors.lastname: Piccoli
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Brigida
authors.initials: B
authors.lastname: Fierro
authors.forename: Federico
authors.initials: F
authors.lastname: Piccoli
authors.forename: Gennarina
authors.initials: G
authors.lastname: Arabia
authors.forename: Manuela
authors.initials: M
authors.lastname: Caracciolo
authors.forename: Innocenza Claudia
authors.initials: IC
authors.lastname: Cirò Candiano
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics*; D015152:Blotting, Northern / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D003704:Dementia / Q000150:complications / Q000235:genetics*; D005091:Exons; D005192:Family Health; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009088:Mucoproteins / Q000235:genetics; D009154:Mutation; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000150:complications / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009088:Mucoproteins; D015513:Oncogene Proteins; D012333:RNA, Messenger; C010393:lysin, gastropoda; D018698:Glutamic Acid; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1