Titre
Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Grigsby, J.
Auteure/Auteur
Leehey, M. A.
Auteure/Auteur
Jacquemont, S.
Auteure/Auteur
Brunberg, J. A.
Auteure/Auteur
Hagerman, R. J.
Auteure/Auteur
Wilson, R.
Auteure/Auteur
Epstein, J. H.
Auteure/Auteur
Greco, C. M.
Auteure/Auteur
Tassone, F.
Auteure/Auteur
Hagerman, P. J.
Auteure/Auteur
Liens vers les personnes
ISSN
1543-3633
Statut éditorial
Publié
Date de publication
2006-09
Volume
19
Numéro
3
Première page
165
Dernière page/numéro d’article
171
Peer-reviewed
Oui
Notes
Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Sep
Résumé
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.
Sujets
PID Serval
serval:BIB_ABECBCC56301
PMID
Date de création
2008-02-28T09:42:39.671Z
Date de création dans IRIS
2025-05-20T23:18:32Z