Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS).
OBJECTIVE
This is the first case report of a comprehensive neuropsychologic examination of an older man with the fragile X-associated tremor-ataxia syndrome (FXTAS).


BACKGROUND
FXTAS, a newly identified phenotype affecting older male carriers of the fragile X premutation allele, is a progressive disorder marked by gait ataxia, action tremor, peripheral neuropathy, executive cognitive deficits, generalized brain atrophy, and neuronal and astrocytic intranuclear inclusion bodies throughout the brain. The patient previously had undergone neurologic evaluation, molecular analysis, and magnetic resonance imaging.


METHODS
The patient was administered a neuropsychologic examination, assessing motor and somatosensory functioning, visual and spatial functioning, speech and language, attention, executive abilities, learning and memory, and reasoning.


RESULTS
The patient showed a pattern of cognitive impairment characterized by essentially normal speech and language, moderately impaired control of attention, and moderate to severe deficits in working memory, executive functioning, and both declarative and procedural learning. Visual and spatial abilities were relatively unimpaired, and verbal reasoning was only mildly deficient.


CONCLUSIONS
The findings suggest that a cognitive disorder, with especially marked executive cognitive function and memory deficits, accompanies FXTAS. The findings in FXTAS are compared with those in several other neurodegenerative disorders.
Grigsby
Jim
J
Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045-5701, USA. jim.grigsby@uchsc.edu
Leehey
Maureen A
MA
Jacquemont
Sébastien
S
Brunberg
James A
JA
Hagerman
Randi J
RJ
Wilson
Rebecca
R
Epstein
Jennifer H
JH
Greco
Claudia M
CM
Tassone
Flora
F
Hagerman
Paul J
PJ
D000368:Aged; D001259:Ataxia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001288:Attention; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008569:Memory Disorders / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D009483:Neuropsychological Tests; D013577:Syndrome; D014202:Tremor / Q000150:complications* / Q000235:genetics / Q000473:pathology; D018911:Trinucleotide Repeats / Q000235:genetics