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Ann Neurol. 2005 Nov;58(5):803-7.

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

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1
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.

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.

PMID:
16240358
DOI:
10.1002/ana.20666
[Indexed for MEDLINE]
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