6533b873fe1ef96bd12d449c

RESEARCH PRODUCT

Further evidence of genetic heterogeneity in familial essential tremor.

Giuseppe SalemiPaolo AridonMaurizio De FuscoGiorgio CasariGiovanni SavettieriPaolo Ragonese

subject

AdultMaleGenetic LinkageLocus (genetics)DiseaseBiologyGenetic analysisGenetic HeterogeneityGenetic linkagemedicineHumansAge of OnsetAgedGeneticsEssential tremorGenetic heterogeneityMiddle Agedmedicine.diseasePhenotypePedigreeNeurologySettore MED/03 - Genetica MedicaDisease ProgressionEssential tremorFemaleSettore MED/26 - NeurologiaNeurology (clinical)Geriatrics and GerontologyAge of onsetLinkage analysiNeurological disease

description

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. (C) 2007 Elsevier Ltd. All rights reserved.

yearjournalcountryeditionlanguage
2007-03-16
10.1016/j.parkreldis.2007.05.002http://hdl.handle.net/10447/30972