Literature DB >> 15546601

Fragile X gene premutation in multiple system atrophy.

E M Garland1, C L Vnencak-Jones, I Biaggioni, T L Davis, T J Montine, D Robertson.   

Abstract

Previous reports have suggested that expansion of the CGG repeat located in the fragile X mental retardation 1 (FMR1) gene might be responsible for a significant number of patients with the multiple system atrophy (MSA) phenotype. Analysis of 65 MSA patients found only 4.6% displayed CGG expansions in the suspected range. This is similar to the frequency reported in the normal population, suggesting that this expansion does not play a major role in the MSA phenotype.

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Year:  2004        PMID： 15546601     DOI： 10.1016/j.jns.2004.08.013

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


  9 in total

1.  Size bias of fragile X premutation alleles in late-onset movement disorders.

Authors:  Sebastien Jacquemont; Maureen A Leehey; Randi J Hagerman; Laurel A Beckett; Paul J Hagerman
Journal:  J Med Genet       Date:  2006-05-24       Impact factor: 6.318

Review 2.  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 3.  FXTAS: a progressive neurologic syndrome associated with Fragile X premutation.

Authors:  Rob Willemsen; Edwin Mientjes; Ben A Oostra
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

4.  A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.

Authors:  L Lorefice; S Tranquilli; G Fenu; M R Murru; J Frau; M Rolesu; G C Coghe; F Marrosu; M G Marrosu; E Cocco
Journal:  Neurol Sci       Date:  2015-07-21       Impact factor: 3.307

Review 5.  Unstable mutations in the FMR1 gene and the phenotypes.

Authors:  Danuta Loesch; Randi Hagerman
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

6.  Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.

Authors:  Deborah A Hall; Joan A O'keefe
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2012-05-11

7.  FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Authors:  Ana I Seixas; José Vale; Paula Jorge; Isabel Marques; Rosário Santos; Isabel Alonso; Ana M Fortuna; Jorge Pinto-Basto; Paula Coutinho; Russell L Margolis; Jorge Sequeiros; Isabel Silveira
Journal:  Behav Brain Funct       Date:  2011-06-03       Impact factor: 3.759

Review 8.  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 9.  Multiple system atrophy: the application of genetics in understanding etiology.

Authors:  Monica Federoff; Lucia V Schottlaender; Henry Houlden; Andrew Singleton
Journal:  Clin Auton Res       Date:  2015-02-17       Impact factor: 4.435
  9 in total

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