DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex
- Authors: 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; CIRO CANDIANO IC; QUATTRONE A
- Publication year: 2005
- Type: Articolo in rivista (Articolo in rivista)
- Key words: DISEASE; TAU; PARK7; GENE; DEGENERATION; INCLUSIONS; GUAM
- OA Link: http://hdl.handle.net/10447/21989
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