Literature DB >> 25796179

Genetic analysis of FMR1 repeat expansion in essential tremor.

L N Clark1, X Ye2, X Liu2, E D Louis3.   

Abstract

We performed an association analysis of Fragile X mental retardation 1 (FMR1) CGG repeats in 321 essential tremor (ET) cases and 296 controls at Columbia University. In addition to analyzing the allele distribution (10-49 CGG repeats) in the entire sample, we also performed a screen for ET cases with the FMR1 premutation allele (55-200 CGG repeats), and evaluated an association between ET and FMR1 alleles that included gray zone alleles (41-54 CGG repeats). CGG premutation alleles and gray zone alleles were rare in ET cases, and we found no evidence for association of premutation or gray zone alleles with ET. These data suggest that FMR1 CGG repeats are not a genetic risk factor for ET.
Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Essential tremor; FMR1; Fragile X; Genetics; Gray zone alleles; Premutation alleles

Mesh:

Substances:

Year:  2015        PMID: 25796179      PMCID: PMC4393799          DOI: 10.1016/j.neulet.2015.03.027

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  11 in total

Review 1.  Clinical practice. Essential tremor.

Authors:  E D Louis
Journal:  N Engl J Med       Date:  2001-09-20       Impact factor: 91.245

2.  Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort.

Authors:  E K Tan; Y Zhao; K Y Puong; H Y Law; L L Chan; K Yew; C Tan; H Shen; V R Chandran; M L Teoh; Y Yih; R Pavanni; M C Wong; I S Ng
Journal:  Neurology       Date:  2004-07-27       Impact factor: 9.910

3.  Premutation alleles associated with Parkinson disease and essential tremor.

Authors:  Hao Deng; Weidong Le; Joseph Jankovic
Journal:  JAMA       Date:  2004-10-13       Impact factor: 56.272

4.  Replication of the LINGO1 gene association with essential tremor in a North American population.

Authors:  Lorraine N Clark; Naeun Park; Sergey Kisselev; Eileen Rios; Joseph H Lee; Elan D Louis
Journal:  Eur J Hum Genet       Date:  2010-04-07       Impact factor: 4.246

Review 5.  How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor.

Authors:  Elan D Louis; Joaquim J Ferreira
Journal:  Mov Disord       Date:  2010-04-15       Impact factor: 10.338

6.  Essential tremor 10, 20, 30, 40: clinical snapshots of the disease by decade of duration.

Authors:  E D Louis; M Gerbin; M Galecki
Journal:  Eur J Neurol       Date:  2013-03-21       Impact factor: 6.089

7.  FXTAS: new insights and the need for revised diagnostic criteria.

Authors:  Emmanuelle Apartis; Anne Blancher; Wassilios G Meissner; Lucie Guyant-Maréchal; David Maltête; Thomas De Broucker; André-Pierre Legrand; Hichem Bouzenada; Hung Tran Thanh; Magali Sallansonnet-Froment; Adrien Wang; François Tison; Carole Roué-Jagot; Frédéric Sedel; Perrine Charles; Sandra Whalen; Delphine Héron; Stéphane Thobois; Alice Poisson; Gaetan Lesca; Anne-Marie Ouvrard-Hernandez; Valérie Fraix; Stephane Palfi; Marie-Odile Habert; Bertrand Gaymard; Jean-Claude Dussaule; Pierre Pollak; Marie Vidailhet; Alexandra Durr; Jean-Claude Barbot; Véronique Gourlet; Alexis Brice; Mathieu Anheim
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

8.  Screen for expanded FMR1 alleles in patients with essential tremor.

Authors:  Dolores Garcia Arocena; Elan D Louis; Flora Tassone; T Conrad Gilliam; Ruth Ottman; Sébastien Jacquemont; Paul J Hagerman
Journal:  Mov Disord       Date:  2004-08       Impact factor: 10.338

9.  Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.

Authors:  Karin Weiss; Avi Orr-Urtreger; Idit Kaplan Ber; Tova Naiman; Ruth Shomrat; Eyal Bardugu; Yuval Yaron; Shay Ben-Shachar
Journal:  Genet Med       Date:  2014-05-29       Impact factor: 8.822

10.  In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Authors:  Deborah A Hall
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2014-06-05
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  6 in total

Review 1.  Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders.

Authors:  Erin E Robertson; Deborah A Hall; Andrew R McAsey; Joan A O'Keefe
Journal:  Clin Neuropsychol       Date:  2016-08       Impact factor: 3.535

Review 2.  [Genetics of tremor].

Authors:  G Kuhlenbäumer; F Hopfner
Journal:  Nervenarzt       Date:  2018-04       Impact factor: 1.214

3.  Prevalence of fragile X-associated tremor/ataxia syndrome: A survey of essential tremor patients with cerebellar signs or extrapyramidal signs.

Authors:  Ji-Hyung Park; Wooyoung Jang; Jinyoung Youn; Chang-Seok Ki; Byoung Joon Kim; Hee-Tae Kim; Elan D Louis; Jin Whan Cho
Journal:  Brain Behav       Date:  2019-06-03       Impact factor: 2.708

Review 4.  Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.

Authors:  Ana Maria Cabal-Herrera; Nattaporn Tassanakijpanich; Maria Jimena Salcedo-Arellano; Randi J Hagerman
Journal:  Int J Mol Sci       Date:  2020-06-20       Impact factor: 5.923

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

6.  Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers.

Authors:  Alexandra Peyser; Tomer Singer; Christine Mullin; Avner Hershlag
Journal:  JBRA Assist Reprod       Date:  2017-12-01
  6 in total

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