Literature DB >> 23064782

Autosomal dominant essential tremor: a novel family with anticipation.

Elena Pasini1, Giorgia Busolin, Carlo Nobile, Roberto Michelucci.   

Abstract

Essential tremor (ET) is a common progressive movement disorder characterized by a clear genetic predisposition. In the last years, many efforts have been done to map susceptibility loci for ET. Here, we report a clinical and genetic study of a family with ET showing autosomal dominant inheritance and anticipation over three generations. The family has five affected members and exhibits a remarkable anticipation of age at onset of the disease along the generations. We excluded linkage to any of the three loci previously mapped in autosomal dominant ET families. Our data suggest the existence of an additional locus in which a repeat expansion is the possible genetic defect underlying ET.

Entities:  

Mesh:

Substances:

Year:  2012        PMID: 23064782     DOI: 10.1007/s10072-012-1216-5

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  10 in total

1.  Prevalence of essential tremor in the territory of Lake Trasimeno, Italy: results of a population-based study.

Authors:  Maria Luisa Mancini; Fabrizio Stracci; Nicola Tambasco; Paola Sarchielli; Aroldo Rossi; Paolo Calabresi
Journal:  Mov Disord       Date:  2007-03-15       Impact factor: 10.338

2.  Linkage exclusion in Italian families with hereditary essential tremor.

Authors:  A Novelletto; R Gulli; P Ciotti; C Vitale; P Malaspina; P Blasi; T Pippucci; M Seri; A Cozzolino; L Bilo; G Abbruzzese; P Martinelli; E Bellone; P Barone; P Mandich
Journal:  Eur J Neurol       Date:  2011-09       Impact factor: 6.089

3.  Anticipation of onset age in hereditary essential tremor.

Authors:  M Bragoni; G Fabbrini; S Di Legge; M Altieri; V Di Piero
Journal:  Ital J Neurol Sci       Date:  1997-02

4.  Mapping of a familial essential tremor gene, FET1, to chromosome 3q13.

Authors:  J R Gulcher; P Jónsson; A Kong; K Kristjánsson; M L Frigge; A Kárason; I E Einarsdóttir; H Stefánsson; A S Einarsdóttir; S Sigurthoardóttir; S Baldursson; S Björnsdóttir; S M Hrafnkelsdóttir; F Jakobsson; J Benedickz; K Stefánsson
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

5.  A gene (ETM) for essential tremor maps to chromosome 2p22-p25.

Authors:  J J Higgins; L T Pho; L E Nee
Journal:  Mov Disord       Date:  1997-11       Impact factor: 10.338

6.  Further evidence of genetic heterogeneity in familial essential tremor.

Authors:  Paolo Aridon; Paolo Ragonese; Maurizio De Fusco; Giuseppe Salemi; Giorgio Casari; Giovanni Savettieri
Journal:  Parkinsonism Relat Disord       Date:  2007-08-20       Impact factor: 4.891

Review 7.  Environmental epidemiology of essential tremor.

Authors:  Elan D Louis
Journal:  Neuroepidemiology       Date:  2008-08-21       Impact factor: 3.282

8.  No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.

Authors:  S Pigullo; E Di Maria; R Marchese; A Assini; E Bellone; C Scaglione; C Vitale; U Bonuccelli; P Barone; F Ajmar; P Martinelli; G Abbruzzese; P Mandich
Journal:  J Neural Transm (Vienna)       Date:  2001       Impact factor: 3.575

9.  Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Authors:  Alexey Shatunov; Nyamkhishig Sambuughin; Joseph Jankovic; Rodger Elble; Hee Suk Lee; Andrew B Singleton; Ayush Dagvadorj; Jay Ji; Yiping Zhang; Virginia E Kimonis; John Hardy; Mark Hallett; Lev G Goldfarb
Journal:  Brain       Date:  2006-05-15       Impact factor: 13.501

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

Authors:  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
Journal:  Neurol Sci       Date:  2001-02       Impact factor: 3.307

  10 in total
  4 in total

1.  Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.

Authors:  Xue-Rong Leng; Xiao-Hong Qi; Yong-Tao Zhou; Yu-Ping Wang
Journal:  J Hum Genet       Date:  2017-03-16       Impact factor: 3.172

2.  Genome-wide estimates of heritability and genetic correlations in essential tremor.

Authors:  Monica Diez-Fairen; Sara Bandres-Ciga; Gabrielle Houle; Mike A Nalls; Simon L Girard; Patrick A Dion; Cornelis Blauwendraat; Andrew B Singleton; Guy A Rouleau; Pau Pastor
Journal:  Parkinsonism Relat Disord       Date:  2019-05-04       Impact factor: 4.891

Review 3.  What is essential tremor?

Authors:  Rodger J Elble
Journal:  Curr Neurol Neurosci Rep       Date:  2013-06       Impact factor: 5.081

4.  A Series of 211 Children with Probable Essential Tremor.

Authors:  Debabrata Ghosh; Harmeet Brar; Ugen Lhamu; A David Rothner; Gerald Erenberg
Journal:  Mov Disord Clin Pract       Date:  2016-07-08
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.