Literature DB >> 23660545

FUS in familial essential tremor - the search for common causes is still on.

Peter Hedera1, Thomas L Davis, Fenna T Phibbs, P David Charles, Mark S LeDoux.   

Abstract

The genetic etiology of essential tremor remains unknown despite the significant proportion of familial cases. The search for monogenic causes has repeatedly failed until recent identification of three disease-causing mutations in FUS (fused in sarcoma), a gene previously linked to a rare forms of familial amyotrophic lateral sclerosis with frontotemporal dementia. The genetic epidemiology of FUS in ET is unknown. Herein, we screened 104 patients from 52 pedigrees for mutations in the coding sequence of FUS. Two of the most genetically distant affected individuals from each pedigree were selected for Sanger sequencing to potentially increase the success of genetic analysis. We did not identify a single pathogenic mutation. Our data suggest that FUS mutations are a rare cause of familial ET.
Copyright © 2013 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Autosomal dominant; Essential tremor; FUS; Mutation

Mesh:

Substances:

Year:  2013        PMID: 23660545     DOI: 10.1016/j.parkreldis.2013.04.009

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  5 in total

Review 1.  The role of FUS gene variants in neurodegenerative diseases.

Authors:  Hao Deng; Kai Gao; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2014-05-20       Impact factor: 42.937

2.  Identification of FUS p.R377W in essential tremor.

Authors:  A Rajput; A H Rajput; M L Rajput; M Encarnacion; C Q Bernales; J P Ross; M J Farrer; C Vilariño-Güell
Journal:  Eur J Neurol       Date:  2013-07-03       Impact factor: 6.089

3.  Epidemiology of Pediatric Essential Tremor in the United States: A Systematic Literature Review from 2010 to 2020.

Authors:  Margaret E Gerbasi; Adi Eldar-Lissai; Kelly E Lyons
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-04-19

Review 4.  Pharmacotherapy of essential tremor.

Authors:  Peter Hedera; František Cibulčík; Thomas L Davis
Journal:  J Cent Nerv Syst Dis       Date:  2013-12-22

Review 5.  Genomic Markers for Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez
Journal:  Pharmaceuticals (Basel)       Date:  2021-05-27
  5 in total

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