Article
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
Annals of neurology - 1 Nov 2005
Annesi Grazia, Savettieri Giovanni, Pugliese Pierfrancesco, D'Amelio Marco, Tarantino Patrizia, Ragonese Paolo, La Bella Vincenzo, Piccoli Tommaso, Civitelli Donatella, Annesi Ferdinanda, Fierro Brigida, Piccoli Federico, Arabia Gennarina, Caracciolo Manuela, Cirò Candiano Innocenza Claudia, Quattrone Aldo
Abstract excerpt
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....
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