Literature DB >> 23682623

Update on genetics of essential tremor.

F J Jiménez-Jiménez1, H Alonso-Navarro, E García-Martín, O Lorenzo-Betancor, P Pastor, J A G Agúndez.   

Abstract

Despite the research, few advances in the etiopathogenesis on essential tremor (ET) have been made to date. The high frequency of positive family history of ET and the observed high concordance rates in monozygotic compared with dizygotic twins support a major role of genetic factors in the development of ET. In addition, a possible role of environmental factors has been suggested in the etiology of ET (at least in non-familial forms). Although several gene variants in the LINGO1 gene may increase the risk of ET, to date no causative mutated genes have been identified. In this review, we summarize the studies performed on families with tremor, twin studies, linkage studies, case-control association studies, and exome sequencing in familial ET.
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  essential tremor; family history; genetic polymorphisms; genetics; linkage studies

Mesh:

Substances:

Year:  2013        PMID: 23682623     DOI: 10.1111/ane.12148

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  20 in total

Review 1.  Challenges in essential tremor genetics.

Authors:  L N Clark; E D Louis
Journal:  Rev Neurol (Paris)       Date:  2015-05-21       Impact factor: 2.607

2.  Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor.

Authors:  Hilal Unal Gulsuner; Suleyman Gulsuner; Fatma Nazli Mercan; Onur Emre Onat; Tom Walsh; Hashem Shahin; Ming K Lee; Okan Dogu; Tulay Kansu; Haluk Topaloglu; Bulent Elibol; Cenk Akbostanci; Mary-Claire King; Tayfun Ozcelik; Ayse B Tekinay
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-30       Impact factor: 11.205

3.  Gene expression analysis of the cerebellar cortex in essential tremor.

Authors:  Regina T Martuscello; Chloë A Kerridge; Debotri Chatterjee; Whitney G Hartstone; Sheng-Han Kuo; Peter A Sims; Elan D Louis; Phyllis L Faust
Journal:  Neurosci Lett       Date:  2019-11-07       Impact factor: 3.046

4.  Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Authors:  Hyun Hor; Ludmila Francescatto; Luca Bartesaghi; Sara Ortega-Cubero; Maria Kousi; Oswaldo Lorenzo-Betancor; Felix J Jiménez-Jiménez; Alexandre Gironell; Jordi Clarimón; Oliver Drechsel; José A G Agúndez; Daniela Kenzelmann Broz; Ruth Chiquet-Ehrismann; Alberto Lleó; Francisco Coria; Elena García-Martin; Hortensia Alonso-Navarro; Maria J Martí; Jaume Kulisevsky; Charlotte N Hor; Stephan Ossowski; Roman Chrast; Nicholas Katsanis; Pau Pastor; Xavier Estivill
Journal:  Hum Mol Genet       Date:  2015-07-17       Impact factor: 6.150

Review 5.  Essential tremor.

Authors:  Lorraine N Clark; Elan D Louis
Journal:  Handb Clin Neurol       Date:  2018

6.  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

Review 7.  Sleep Disorders in Patients with Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; José A G Agúndez
Journal:  Curr Neurol Neurosci Rep       Date:  2021-03-22       Impact factor: 5.081

Review 8.  The Role of β-Carboline Alkaloids in the Pathogenesis of Essential Tremor.

Authors:  Svetlana Iuliana Laviță; Rania Aro; Béla Kiss; Mario Manto; Pierre Duez
Journal:  Cerebellum       Date:  2016-06       Impact factor: 3.847

9.  Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor.

Authors:  José A G Agúndez; Elena García-Martín; Hortensia Alonso-Navarro; Christopher Rodríguez; Mónica Díez-Fairén; Ignacio Álvarez; Pau Pastor; Julián Benito-León; Tomás López-Alburquerque; Félix Javier Jiménez-Jiménez
Journal:  Mol Neurobiol       Date:  2022-03-24       Impact factor: 5.590

Review 10.  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
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