Further evidence of genetic heterogeneity in familial essential tremor

Paolo Aridon; Paolo Ragonese; Maurizio De Fusco; Giuseppe Salemi; Giorgio Casari; Giovanni Savettieri

doi:10.1016/j.parkreldis.2007.05.002

Further evidence of genetic heterogeneity in familial essential tremor

Paolo Aridon, Paolo Ragonese, Maurizio De Fusco, Giuseppe Salemi, Giorgio Casari, Giovanni Savettieri

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	15-18
Number of pages	4
Journal	Parkinsonism and Related Disorders
Volume	14
Issue number	1
DOIs	https://doi.org/10.1016/j.parkreldis.2007.05.002
Publication status	Published - Jan 2008

Keywords

Essential tremor
Linkage analysis
Neurological disease

ASJC Scopus subject areas

Ageing
Clinical Neurology
Neurology

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AU - Aridon, Paolo

AU - Ragonese, Paolo

AU - De Fusco, Maurizio

AU - Salemi, Giuseppe

AU - Casari, Giorgio

AU - Savettieri, Giovanni

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AB - 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.

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KW - Neurological disease

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Further evidence of genetic heterogeneity in familial essential tremor

Abstract

Keywords

ASJC Scopus subject areas

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