TY - JOUR
T1 - Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)
AU - Grigsby, Jim
AU - Leehey, Maureen A.
AU - Jacquemont, Sébastien
AU - Brunberg, James A
AU - Hagerman, Randi J
AU - Wilson, Rebecca
AU - Epstein, Jennifer H.
AU - Greco, Claudia M.
AU - Tassone, Flora
AU - Hagerman, Paul J
PY - 2006/9
Y1 - 2006/9
N2 - 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. 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.
AB - 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. 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.
KW - Cognition disorders
KW - Executive cognitive function disorders
KW - Fragile X syndrome
KW - FXTAS
KW - Trinucleotide repeats
UR - http://www.scopus.com/inward/record.url?scp=33748541972&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33748541972&partnerID=8YFLogxK
U2 - 10.1097/01.wnn.0000213906.57148.01
DO - 10.1097/01.wnn.0000213906.57148.01
M3 - Article
C2 - 16957495
AN - SCOPUS:33748541972
VL - 19
SP - 165
EP - 171
JO - Cognitive and Behavioral Neurology
JF - Cognitive and Behavioral Neurology
SN - 1543-3633
IS - 3
ER -