Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Détails
ID Serval
serval:BIB_30A56AD2B745
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Périodique
Neurology
ISSN
1526-632X
Statut éditorial
Publié
Date de publication
07/2005
Peer-reviewed
Oui
Volume
65
Numéro
2
Pages
299-301
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: Jul 26
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: Jul 26
Résumé
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly described disorder that occurs in premutation carriers of the fragile X mental retardation 1 (FMR1) gene. Fifty-six patients with FXTAS were given 98 prior diagnoses: most were in the categories of parkinsonism, tremor, ataxia, dementia, or stroke. Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS.
Mots-clé
Age Factors
Age of Onset
Aged
Atrophy/genetics/pathology
Cerebellum/pathology/physiopathology
DNA Mutational Analysis
Diagnosis, Differential
Diagnostic Errors/*statistics & numerical data
Family Health
Female
Fragile X Syndrome/*complications/genetics
Gait Ataxia/*diagnosis/genetics/physiopathology
Genetic Screening
Health Surveys
Humans
Male
Middle Aged
Parkinson Disease/diagnosis/pathology/physiopathology
Stroke/diagnosis/pathology/physiopathology
Syndrome
Tremor/*diagnosis/genetics/physiopathology
Pubmed
Web of science
Création de la notice
28/02/2008 11:42
Dernière modification de la notice
20/08/2019 14:15
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