DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
Article Details
- CitationCopy to clipboard
Annesi G, Savettieri G, Pugliese P, D'Amelio M, Tarantino P, Ragonese P, La Bella V, Piccoli T, Civitelli D, Annesi F, Fierro B, Piccoli F, Arabia G, Caracciolo M, Ciro Candiano IC, Quattrone A
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.
Ann Neurol. 2005 Nov;58(5):803-7.
- PubMed ID
- 16240358 [ View in PubMed]
- 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.