期刊
COGNITIVE AND BEHAVIORAL NEUROLOGY
卷 19, 期 3, 页码 165-171出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/01.wnn.0000213906.57148.01
关键词
fragile X syndrome; FXTAS; cognition disorders; trinucleotide repeats; executive cognitive function disorders
资金
- NICHD NIH HHS [HD36071] Funding Source: Medline
- NINDS NIH HHS [R01 NS044299, R01 NS43532] Funding Source: Medline
- PHS HHS [MCJ-089413] Funding Source: Medline
Objective: This is the first case report of a comprehensive ne uropsychologic 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. Method: 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.
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