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EnglishMutations 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
| Data di pubblicazione: | 2005 |
| Titolo: | DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex |
| Autori: | |
| Citazione: | 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. |
| Rivista: | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ana.20666 |
| 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 subjects |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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