Literature DB >> 27696273

Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Atefeh Entezari1,2, Mahmoud Shekari Khaniani2, Tayyeb Bahrami3, Sima Mansoori Derakhshan4,5, Hossein Darvish6.   

Abstract

Male carriers of an expansion of CGG alleles (with 55-200 CGG repeats) in the FMR1 gene are affected with Fragile X-associated tremor/ataxia syndrome (FXTAS). On the other hand, individuals with Parkinson's disease (PD) or Parkinsonism spectrum disorders may have some clinical features that overlap with FXTAS. To investigate the possible association between PD and FMR1 expanded alleles, we screened a total of 154 male PD patients and 190 gender- and age-matched healthy control subjects from Iran. Eleven intermediate allele carriers (7.14 %) were detected among PD patients, compared with three carriers (1.57 %) among the controls (P = 0.01). No pre-mutation carriers were identified. Our results indicate that there is a potential association between FMR1 intermediate expanded alleles and PD.

Entities:  

Keywords:  FMR1; FXTAS; Parkinsonism; Trinucleotide repeat expansions

Mesh:

Substances:

Year:  2016        PMID: 27696273     DOI: 10.1007/s10072-016-2723-6

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


  48 in total

1.  Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.

Authors:  Deborah Hall; Flora Tassone; Olga Klepitskaya; Maureen Leehey
Journal:  Mov Disord       Date:  2011-12-11       Impact factor: 10.338

2.  FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers.

Authors:  Ch Zühlke; A Budnik; U Gehlken; A Dalski; S Purmann; M Naumann; M Schmidt; K Bürk; E Schwinger
Journal:  J Neurol       Date:  2004-11       Impact factor: 4.849

3.  Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.

Authors:  B Bodega; S Bione; L Dalprà; D Toniolo; F Ornaghi; W Vegetti; E Ginelli; Anna Marozzi
Journal:  Hum Reprod       Date:  2005-12-16       Impact factor: 6.918

4.  The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.

Authors:  Rob Willemsen; Marianne Hoogeveen-Westerveld; Surya Reis; Joan Holstege; Lies-Anne W F M Severijnen; Ingeborg M Nieuwenhuizen; Mariette Schrier; Leontine van Unen; Flora Tassone; Andre T Hoogeveen; Paul J Hagerman; Edwin J Mientjes; Ben A Oostra
Journal:  Hum Mol Genet       Date:  2003-05-01       Impact factor: 6.150

5.  Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.

Authors:  Elizabeth Berry-Kravis; Kristina Potanos; Dahlia Weinberg; Lili Zhou; Christopher G Goetz
Journal:  Ann Neurol       Date:  2005-01       Impact factor: 10.422

6.  Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Authors:  H Toledano-Alhadef; L Basel-Vanagaite; N Magal; B Davidov; S Ehrlich; V Drasinover; E Taub; G J Halpern; N Ginott; M Shohat
Journal:  Am J Hum Genet       Date:  2001-07-06       Impact factor: 11.025

7.  Expanded clinical phenotype of women with the FMR1 premutation.

Authors:  Sarah M Coffey; Kylee Cook; Nicole Tartaglia; Flora Tassone; Danh V Nguyen; Ruiqin Pan; Hannah E Bronsky; Jennifer Yuhas; Mariya Borodyanskaya; Jim Grigsby; Melanie Doerflinger; Paul J Hagerman; Randi J Hagerman
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

Review 8.  The fragile-X premutation: a maturing perspective.

Authors:  Paul J Hagerman; Randi J Hagerman
Journal:  Am J Hum Genet       Date:  2004-03-29       Impact factor: 11.025

Review 9.  Prevalence of FMR1 repeat expansions in movement disorders. A systematic review.

Authors:  D A Hall; R J Hagerman; P J Hagerman; S Jacquemont; M A Leehey
Journal:  Neuroepidemiology       Date:  2006-02-21       Impact factor: 3.282

Review 10.  Lessons from fragile X regarding neurobiology, autism, and neurodegeneration.

Authors:  Randi J Hagerman
Journal:  J Dev Behav Pediatr       Date:  2006-02       Impact factor: 2.225

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  2 in total

1.  Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range.

Authors:  Jessica Klusek; Anna Porter; Leonard Abbeduto; Tatyana Adayev; Flora Tassone; Marsha R Mailick; Anne Glicksman; Bridgette L Tonnsen; Jane E Roberts
Journal:  Front Genet       Date:  2018-08-24       Impact factor: 4.599

2.  Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.

Authors:  María Jimena Salcedo-Arellano; Marisol Wendy Wolf-Ochoa; Tiffany Hong; Sarwat Amina; Flora Tassone; Mirna Lechpammer; Randi Hagerman; Verónica Martínez-Cerdeño
Journal:  Mov Disord Clin Pract       Date:  2020-04-09
  2 in total

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