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

被引:138
作者
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
Candiano, ICC
Quattrone, A
机构
[1] Univ Magne Graecia, Cattedra & UO Neurol, Inst Neurol, I-88100 Catanzaro, Italy
[2] Univ Palermo, Dept Neurol Ophthalmol Otorinolaringol & Psychiat, Palermo, Italy
[3] CNR, Inst Neurol Sci, Cosenza, Italy
关键词
D O I
10.1002/ana.20666
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
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页码:803 / 807
页数:5
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