Clinical and genetic study of essential tremor in the Italian population

Essential tremor (ET) is one of the most common movement disorders. The pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidence suggested that the ET gene contains a CAG expanded region. We examined a cohort of 240 Italian ET patients, class...

Full description

Saved in:
Bibliographic Details
Published in:Neurological sciences 2001-02, Vol.22 (1), p.39-40
Main Authors: Abbruzzese, G, Pigullo, S, Di Maria, E, Martinelli, P, Barone, P, Marchese, R, Scaglione, C, Assini, A, Lucetti, C, Berardelli, A, Calzetti, S, Bellone, E, Ajmar, F, Mandich, P
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Chromosome Mapping
Chromosomes, Human, Pair 2 - genetics
Chromosomes, Human, Pair 3 - genetics
DNA Mutational Analysis
Essential Tremor - genetics
Essential Tremor - physiopathology
Female
Genetic Markers - genetics
Genetic Testing
Genetics
Humans
Italy
Male
Middle Aged
Neurosciences
Pathogenesis
Phenotype
Tandem Repeat Sequences - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Essential tremor (ET) is one of the most common movement disorders. The pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidence suggested that the ET gene contains a CAG expanded region. We examined a cohort of 240 Italian ET patients, classified as familial (193 cases) and sporadic (47 cases). The clinical manifestations of ET patients confirmed that the disorder is characterised by a large phenotypic variability. Repeat expansion detection (RED) approach did not demonstrate large CAG expansions. Six families were genotyped with 12 microsatellites markers of 2p and 3q regions and analysed according to parametrical methods. Lod scores values obtained in these families excluded the association of ET with 2p and 3q loci. Our findings confirm the presence of genetic heterogeneity and suggest that at least a third locus is involved in the pathogenesis of familial essential tremor.
ISSN:1590-1874
1590-3478
DOI:10.1007/s100720170036