Literature DB >> 15929093

Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

Katja Hedrich1, Peter P Pramstaller, Katrin Stübke, Anja Hiller, Kemal Kabakci, Sabine Purmann, Meike Kasten, Cesa Scaglione, Eberhard Schwinger, Jens Volkmann, Vladimir Kostic, Peter Vieregge, Paolo Martinelli, Giovanni Abbruzzese, Christine Klein, Christine Zühlke.   

Abstract

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation. Copyright 2005 Movement Disorder Society

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Year:  2005        PMID： 15929093     DOI： 10.1002/mds.20512

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


  11 in total

1.  Newborn screening and cascade testing for FMR1 mutations.

Authors:  Page L Sorensen; Louise W Gane; Mark Yarborough; Randi J Hagerman; Flora Tassone
Journal:  Am J Med Genet A       Date:  2012-12-13       Impact factor: 2.802

2.  FMR1 gray-zone alleles: association with Parkinson's disease in women?

Authors:  Deborah A Hall; Elizabeth Berry-Kravis; Wenting Zhang; Flora Tassone; Elaine Spector; Gary Zerbe; Paul J Hagerman; Bichun Ouyang; Maureen A Leehey
Journal:  Mov Disord       Date:  2011-05-12       Impact factor: 10.338

Review 3.  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 4.  Twenty years since the discovery of the parkin gene.

Authors:  Nobutaka Hattori; Yoshikuni Mizuno
Journal:  J Neural Transm (Vienna)       Date:  2017-06-15       Impact factor: 3.575

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

Authors:  Atefeh Entezari; Mahmoud Shekari Khaniani; Tayyeb Bahrami; Sima Mansoori Derakhshan; Hossein Darvish
Journal:  Neurol Sci       Date:  2016-10-01       Impact factor: 3.307

6.  Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.

Authors:  Deborah A Hall; Katherine Howard; Randi Hagerman; Maureen A Leehey
Journal:  Parkinsonism Relat Disord       Date:  2008-06-20       Impact factor: 4.891

7.  Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism.

Authors:  D Z Loesch; M S Khaniani; H R Slater; J P Rubio; Q M Bui; K Kotschet; W D'Souza; A Venn; P Kalitsis; A K H Choo; T Burgess; L Johnson; A Evans; M Horne
Journal:  Clin Genet       Date:  2009-09-30       Impact factor: 4.438

8.  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

9.  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

10.  Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.

Authors:  Erin E Robertson; Deborah A Hall; Gian Pal; Bichun Ouyang; Yuanqing Liu; Jessica M Joyce; Elizabeth Berry-Kravis; Joan A O'Keefe
Journal:  Clin Park Relat Disord       Date:  2020-01-23
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