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
Titre
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Périodique
Neurology
Auteur(s)
Hall  D. A., Berry-Kravis  E., Jacquemont  S., Rice  C. D., Cogswell  J., Zhang  L., Hagerman  R. J., Hagerman  P. J., Leehey  M. A.
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
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 10:42
Dernière modification de la notice
20/08/2019 13:15
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