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- Title
Autosomal dominant essential tremor: a novel family with anticipation.
- Authors
Pasini, Elena; Busolin, Giorgia; Nobile, Carlo; Michelucci, Roberto
- Abstract
Essential tremor (ET) is a common progressive movement disorder characterized by a clear genetic predisposition. In the last years, many efforts have been done to map susceptibility loci for ET. Here, we report a clinical and genetic study of a family with ET showing autosomal dominant inheritance and anticipation over three generations. The family has five affected members and exhibits a remarkable anticipation of age at onset of the disease along the generations. We excluded linkage to any of the three loci previously mapped in autosomal dominant ET families. Our data suggest the existence of an additional locus in which a repeat expansion is the possible genetic defect underlying ET.
- Subjects
TREMOR; DISEASE susceptibility; LOCUS (Genetics); MOVEMENT disorders; DISEASE incidence; LINKAGE (Genetics); GENE mapping
- Publication
Neurological Sciences, 2013, Vol 34, Issue 5, p761
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-012-1216-5