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DJ‐1 mutations and parkinsonism‐dementia‐amyotrophic lateral sclerosis complex
Author(s) -
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
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20666
Subject(s) - amyotrophic lateral sclerosis , parkinsonism , exon , genetics , mutation , dementia , degenerative disease , gene , biology , disease , medicine , pathology
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. Ann Neurol 2005;58:803–807