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


METHODS
Neurological examination, cognitive and neuropsychological testing, nerve conduction studies, MRI, and genetic testing.


METHODS
Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene.


RESULTS
Explanation of the genetic ramifications of premutation carrier status for the FMR1 gene, and symptomatic treatment for the clinical difficulties experienced by the patient.
Hagerman
Paul J
PJ
Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Davis, CA 95616, USA. pjhagerman@ucdavis.edu
Hagerman
Randi J
RJ
D000368:Aged; D001259:Ataxia / Q000209:etiology; D001921:Brain / Q000473:pathology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism*; D005600:Fragile X Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006579:Heterozygote; D006801:Humans; D006973:Hypertension / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D008569:Memory Disorders / Q000209:etiology; D010375:Pedigree; D014202:Tremor / Q000209:etiology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human