Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation (g.168_185dup) in the promoter region of this gene in living affected subjects
ANNESI G, SAVETTIERI G, PUGLIESE P, D'AMELIO M, TARANTINO P, RAGONESE P, et al. (2005). DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. ANNALS OF NEUROLOGY, 58, 803-807 [10.1002/ana.20666].
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex
SAVETTIERI, Giovanni;D'AMELIO, Marco;RAGONESE, Paolo;LA BELLA, Vincenzo;PICCOLI, Tommaso;FIERRO, Brigida;PICCOLI, Federico;
2005-01-01
Abstract
Mutations in DJ-1 gene have been recently shown to cause autosomal recessive early-onset Parkinson’s disease (EOPD) in a large Dutch family and in a small consanguineous Italian family.1 Subsequent to this initial finding, several additional DJ-1 mutations were identified in subjects with EOPD.2–6 We describe a family from southern Italy with three brothers affected by a complex disorder characterized by early-onset parkinsonism-dementia-amyotrophic lateral sclerosis (EOPD-D-ALS). The analysis of the DJ-1 gene showed a novel homozygous mutation (E163K) in exon 7 and a novel homozygous mutation (g.168_185dup) in the promoter region of this gene in living affected subjectsFile | Dimensione | Formato | |
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