Autosomal dominant essential tremor: a novel family with anticipation.
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.
Unit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura, 3, 40139 Bologna, Italy. misselep@gmail.com
Elena
E
Pasini
Giorgia
G
Busolin
Carlo
C
Nobile
Roberto
R
Michelucci
D000293:Adolescent; D000368:Aged; D001426:Bacterial Proteins; D002675:Child, Preschool; D004569:Electroencephalography; D020329:Essential Tremor / Q000175:diagnosis / Q000235:genetics*; D005098:Exotoxins; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D008875:Middle Aged; D055815:Young Adult
D001426:Bacterial Proteins; D005098:Exotoxins; C027951:erythrogenic toxin