Literature DB >> 11445641

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

R J Hagerman1, M Leehey, W Heinrichs, F Tassone, R Wilson, J Hills, J Grigsby, B Gage, P J Hagerman.   

Abstract

The authors report five elderly men with the fragile X premutation who had a progressive action tremor associated with executive function deficits and generalized brain atrophy. These individuals had elevated fragile X mental retardation 1 gene (FMR1) messenger RNA and normal or borderline levels of FMR1 protein. The authors propose that elevations of FMR1 messenger RNA may be causative for a neurodegenerative syndrome in a subgroup of elderly men with the FMR1 premutation.

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Year:  2001        PMID： 11445641     DOI： 10.1212/wnl.57.1.127

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  359 in total

1.  Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia.

Authors:  James Macpherson; Andrew Waghorn; Simon Hammans; Patricia Jacobs
Journal:  Hum Genet       Date:  2003-02-27       Impact factor: 4.132

2.  An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS).

Authors:  Ryu-ichiro Hashimoto; Kristina C Backer; Flora Tassone; Randi J Hagerman; Susan M Rivera
Journal:  J Psychiatr Res       Date:  2010-05-31       Impact factor: 4.791

Review 3.  Neurodegeneration the RNA way.

Authors:  Abigail J Renoux; Peter K Todd
Journal:  Prog Neurobiol       Date:  2011-11-03       Impact factor: 11.685

4.  Sleep apnea in fragile X premutation carriers with and without FXTAS.

Authors:  Alyssa Hamlin; Ying Liu; Danh V Nguyen; Flora Tassone; Lin Zhang; Randi J Hagerman
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2011-09-19       Impact factor: 3.568

5.  New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).

Authors:  Jorge L Juncos; Joash T Lazarus; Emily Graves-Allen; Lisa Shubeck; Michelle Rusin; Gloria Novak; Deborah Hamilton; Julia Rohr; Stephanie L Sherman
Journal:  Neurogenetics       Date:  2011-01-29       Impact factor: 2.660

Review 6.  Structures of trinucleotide repeats in human transcripts and their functional implications.

Authors:  Anna Jasinska; Gracjan Michlewski; Mateusz de Mezer; Krzysztof Sobczak; Piotr Kozlowski; Marek Napierala; Wlodzimierz J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2003-10-01       Impact factor: 16.971

7.  Carrier screening in preconception consultation in primary care.

Authors:  Sylvia A Metcalfe
Journal:  J Community Genet       Date:  2011-12-20

8.  Diagnosis of fragile X syndrome: a qualitative study of African American families.

Authors:  Jeannie Visootsak; Krista Charen; Julia Rohr; Emily Allen; Stephanie Sherman
Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

Review 9.  FMR1: a gene with three faces.

Authors:  Ben A Oostra; Rob Willemsen
Journal:  Biochim Biophys Acta       Date:  2009-02-21

10.  Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS.

Authors:  Ling M Wong; Naomi J Goodrich-Hunsaker; Yingratana McLennan; Flora Tassone; Melody Zhang; Susan M Rivera; Tony J Simon
Journal:  Neuropsychology       Date:  2014-04-28       Impact factor: 3.295
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