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, A. Berardelli, S. Calzetti, E. Bellone, F. Ajmar, P. Mandich

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)39-40
Number of pages2
JournalNeurological Sciences
Volume22
Issue number1
DOIs
Publication statusPublished - Feb 2001

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Essential Tremor
Population
Lod Score
Genetic Heterogeneity
Essential Genes
Movement Disorders
Clinical Studies
Microsatellite Repeats

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Abbruzzese, G., Pigullo, S., Di Maria, E., Martinelli, P., Barone, P., Marchese, R., ... Mandich, P. (2001). Clinical and genetic study of essential tremor in the Italian population. Neurological Sciences, 22(1), 39-40. https://doi.org/10.1007/s100720170036

Clinical and genetic study of essential tremor in the Italian population. / 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.

In: Neurological Sciences, Vol. 22, No. 1, 02.2001, p. 39-40.

Research output: Contribution to journalArticle

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 2001, 'Clinical and genetic study of essential tremor in the Italian population', Neurological Sciences, vol. 22, no. 1, pp. 39-40. https://doi.org/10.1007/s100720170036
Abbruzzese G, Pigullo S, Di Maria E, Martinelli P, Barone P, Marchese R et al. Clinical and genetic study of essential tremor in the Italian population. Neurological Sciences. 2001 Feb;22(1):39-40. https://doi.org/10.1007/s100720170036
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. / Clinical and genetic study of essential tremor in the Italian population. In: Neurological Sciences. 2001 ; Vol. 22, No. 1. pp. 39-40.
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