Literature DB >> 16043804

Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).

D A Hall1, E Berry-Kravis, S Jacquemont, C D Rice, J Cogswell, L Zhang, R J Hagerman, P J Hagerman, M A Leehey.   

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.

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Year:  2005        PMID： 16043804     DOI： 10.1212/01.wnl.0000168900.86323.9c

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


  34 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

2.  MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome.

Authors:  Cesa Scaglione; Andrea Ginestroni; Alessandra Vella; Maria Teresa Dotti; Riccardo Della Nave; Giovanni Rizzo; Maria Teresa De Cristofaro; Nicola De Stefano; Silvia Piacentini; Paolo Martinelli; Mario Mascalchi
Journal:  J Neurol       Date:  2007-12-19       Impact factor: 4.849

Review 3.  A review of fragile X premutation disorders: expanding the psychiatric perspective.

Authors:  James A Bourgeois; Sarah M Coffey; Susan M Rivera; David Hessl; Louise W Gane; Flora Tassone; Claudia Greco; Brenda Finucane; Lawrence Nelson; Elizabeth Berry-Kravis; Jim Grigsby; Paul J Hagerman; Randi J Hagerman
Journal:  J Clin Psychiatry       Date:  2009-05-05       Impact factor: 4.384

4.  Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene.

Authors:  David Hessl; Jim Grigsby
Journal:  Clin Neuropsychol       Date:  2016-06-29       Impact factor: 3.535

5.  Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice.

Authors:  Mathilde Renaud; Julien Perriard; Sarah Coudray; Mathieu Sévin-Allouet; Christophe Marcel; Wassilios G Meissner; Jean-Baptiste Chanson; Nicolas Collongues; Nathalie Philippi; Odile Gebus; Véronique Quenardelle; Anna Castrioto; Paul Krack; Karine N'Guyen; François Lefebvre; Andoni Echaniz-Laguna; Jean-Philippe Azulay; Nicolas Meyer; Pierre Labauge; Christine Tranchant; Mathieu Anheim
Journal:  J Neurol       Date:  2014-12-02       Impact factor: 4.849

6.  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

7.  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

8.  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

9.  Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.

Authors:  Allyn McConkie-Rosell; Liane Abrams; Brenda Finucane; Amy Cronister; Louise W Gane; Sarah M Coffey; Stephanie Sherman; Lawrence M Nelson; Elizabeth Berry-Kravis; David Hessl; Sufen Chiu; Natalie Street; Ajay Vatave; Randi J Hagerman
Journal:  J Genet Couns       Date:  2007-05-12       Impact factor: 2.537

10.  Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis.

Authors:  Claudia M Greco; Flora Tassone; Dolores Garcia-Arocena; Nicole Tartaglia; Sarah M Coffey; Timothy K Vartanian; James A Brunberg; Paul J Hagerman; Randi J Hagerman
Journal:  Arch Neurol       Date:  2008-08
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