DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
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.
Annesi
Grazia
G
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Savettieri
Giovanni
G
Pugliese
Pierfrancesco
P
D'Amelio
Marco
M
Tarantino
Patrizia
P
Ragonese
Paolo
P
La Bella
Vincenzo
V
Piccoli
Tommaso
T
Civitelli
Donatella
D
Annesi
Ferdinanda
F
Fierro
Brigida
B
Piccoli
Federico
F
Arabia
Gennarina
G
Caracciolo
Manuela
M
Cirò Candiano
Innocenza Claudia
IC
Quattrone
Aldo
A
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
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