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
| Lingua originale | English |
|---|---|
| pagine (da-a) | 803-807 |
| Numero di pagine | 5 |
| Rivista | Annals of Neurology |
| Volume | 58 |
| Stato di pubblicazione | Published - 2005 |
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All Science Journal Classification (ASJC) codes
- Neurology
- Clinical Neurology
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D'Amelio, M., Piccoli, T., La Bella, V., Savettieri, G., Fierro, B., Ragonese, P., Arabia, G., Candiano, I. C. C., Civitelli, D., Annesi, F., Caracciolo, M., Annesi, G., Pugliese, P., Quattrone, A., Tarantino, P., & Piccoli, F. (2005). DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. Annals of Neurology, 58, 803-807.