Further evidence of genetic heterogeneity in familial essential tremor.
Familial essential tremor (FET) is a common hereditary movement disorder with phenotypic variability and genetic heterogeneity. To date, linkage analyses revealed three loci associated to essential tremor (ET) (ETM1 on 3q13, ETM2 on 2p22-25, and a locus on 6p23). We performed a genetic analysis of these candidate chromosomal regions in a fifth-generation Italian kindred with autosomal-dominant ET. Of the 22 clinically evaluated family members, nine were affected by ET. The genetic study indicates that the ET in this family is not associated to any of the known ET loci. These findings support evidence of further genetic heterogeneity for such disease.
Aridon
Paolo
P
Dipartimento Universitario di Neuroscienze Cliniche, University of Palermo, Italy.
Ragonese
Paolo
P
De Fusco
Maurizio
M
Salemi
Giuseppe
G
Casari
Giorgio
G
Savettieri
Giovanni
G
D000328:Adult; D017668:Age of Onset; D000368:Aged; D018450:Disease Progression; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree