Literature DB >> 12791039

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

C Rogers1, M W Partington, G M Turner.   

Abstract

Recently it has been reported that late-onset tremor, gait unsteadiness and dementia can be associated with brain atrophy in males of normal intelligence and the pre-mutation carrier state of the fragile X syndrome. We have shown, by means of a telephone survey, that this association is probably causal rather than coincidental. These findings have uncovered another testable cause of late-onset neurological symptoms in males, which also has serious genetic implications for their daughters who are at risk of having sons with full mutations causing mental handicap - the fragile X syndrome.

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Year:  2003        PMID: 12791039     DOI: 10.1034/j.1399-0004.2003.00089.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  7 in total

1.  Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.

Authors:  Aimee Anido; Lisa M Carlson; Lisa Taft; Stephanie L Sherman
Journal:  J Genet Couns       Date:  2005-08       Impact factor: 2.537

Review 2.  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

3.  The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome.

Authors:  Angela G Brega; Glenn Goodrich; Rachael E Bennett; David Hessl; Karen Engle; Maureen A Leehey; Lanee S Bounds; Marsha J Paulich; Randi J Hagerman; Paul J Hagerman; Jennifer B Cogswell; Flora Tassone; Ann Reynolds; Robert Kooken; Michael Kenny; Jim Grigsby
Journal:  J Clin Exp Neuropsychol       Date:  2008-02-15       Impact factor: 2.475

4.  FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Authors:  M A Leehey; E Berry-Kravis; C G Goetz; L Zhang; D A Hall; L Li; C D Rice; R Lara; J Cogswell; A Reynolds; L Gane; S Jacquemont; F Tassone; J Grigsby; R J Hagerman; P J Hagerman
Journal:  Neurology       Date:  2007-12-05       Impact factor: 9.910

5.  Fragile X syndrome: diagnostic and carrier testing.

Authors:  Stephanie Sherman; Beth A Pletcher; Deborah A Driscoll
Journal:  Genet Med       Date:  2005-10       Impact factor: 8.822

6.  Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Elaine Spector; Andrea Behlmann; Kathryn Kronquist; Nancy C Rose; Elaine Lyon; Honey V Reddi
Journal:  Genet Med       Date:  2021-04-01       Impact factor: 8.822

7.  In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Authors:  Deborah A Hall
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2014-06-05
  7 in total

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