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 language | English (US) |
|---|---|
| Pages (from-to) | 107-112 |
| Number of pages | 6 |
| Journal | Nature Clinical Practice Neurology |
| Volume | 3 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 2007 |
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ASJC Scopus subject areas
- Neuroscience(all)
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Fragile X-associated tremor/ataxia syndrome - An older face of the fragile X gene. / Hagerman, Paul J; Hagerman, Randi J.
In: Nature Clinical Practice Neurology, Vol. 3, No. 2, 02.2007, p. 107-112.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Fragile X-associated tremor/ataxia syndrome - An older face of the fragile X gene
AU - Hagerman, Paul J
AU - Hagerman, Randi J
PY - 2007/2
Y1 - 2007/2
N2 - 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.
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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UR - http://www.scopus.com/inward/citedby.url?scp=33846900407&partnerID=8YFLogxK
U2 - 10.1038/ncpneuro0373
DO - 10.1038/ncpneuro0373
M3 - Article
C2 - 17279084
AN - SCOPUS:33846900407
VL - 3
SP - 107
EP - 112
JO - Nature Reviews Neurology
JF - Nature Reviews Neurology
SN - 1759-4758
IS - 2
ER -