Fragile X-associated tremor/ataxia syndrome - An older face of the fragile X gene

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Abstract

Background: A 76-year-old man presented with an 8-year history of balance problems and a 2-year history of short-term memory loss. He had also been experiencing long-term problems with impotence and episodes of urinary incontinence, and had been managed for hypertension for 25 years. His medical history was otherwise unremarkable. Three of his grandchildren had been diagnosed with fragile X syndrome. Investigations: Neurological examination, cognitive and neuropsychological testing, nerve conduction studies, MRI, and genetic testing. Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of premutation carrier status for the FMR1 gene, and symptomatic treatment for the clinical difficulties experienced by the patient.

Original languageEnglish (US)
Pages (from-to)107-112
Number of pages6
JournalNature Clinical Practice Neurology
Volume3
Issue number2
DOIs
StatePublished - Feb 2007

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Fragile X Syndrome
Neural Conduction
Memory Disorders
Neurologic Examination
Urinary Incontinence
Genetic Testing
Erectile Dysfunction
Short-Term Memory
Genes
Hypertension
Fragile X Tremor Ataxia Syndrome
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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title = "Fragile X-associated tremor/ataxia syndrome - An older face of the fragile X gene",
abstract = "Background: A 76-year-old man presented with an 8-year history of balance problems and a 2-year history of short-term memory loss. He had also been experiencing long-term problems with impotence and episodes of urinary incontinence, and had been managed for hypertension for 25 years. His medical history was otherwise unremarkable. Three of his grandchildren had been diagnosed with fragile X syndrome. Investigations: Neurological examination, cognitive and neuropsychological testing, nerve conduction studies, MRI, and genetic testing. Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of premutation carrier status for the FMR1 gene, and symptomatic treatment for the clinical difficulties experienced by the patient.",
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AB - Background: A 76-year-old man presented with an 8-year history of balance problems and a 2-year history of short-term memory loss. He had also been experiencing long-term problems with impotence and episodes of urinary incontinence, and had been managed for hypertension for 25 years. His medical history was otherwise unremarkable. Three of his grandchildren had been diagnosed with fragile X syndrome. Investigations: Neurological examination, cognitive and neuropsychological testing, nerve conduction studies, MRI, and genetic testing. Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of premutation carrier status for the FMR1 gene, and symptomatic treatment for the clinical difficulties experienced by the patient.

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