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.
Clinical and genetic study of essential tremor in the Italian population / G., Abbruzzese; S., Pigullo; E., Di Maria; P., Martinelli; P., Barone; R., Marchese; C., Scaglione; A., Assini; C., Lucetti; Berardelli, Alfredo; S., Calzetti; E., Bellone; F., Ajmar; P., Mandich. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - 22:1(2001), pp. 39-40. (Intervento presentato al convegno XVIIth LIMPE Annual Meeting tenutosi a DOMUS DE MARIA, ITALY nel OCT 25-27, 2000) [10.1007/s100720170036].
Clinical and genetic study of essential tremor in the Italian population
BERARDELLI, Alfredo;
2001
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
