Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)

Details

Serval ID
serval:BIB_30A56AD2B745
Type
Article: article from journal or magazin.
Collection
Publications
Title
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Journal
Neurology
Author(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
Publication state
Published
Issued date
07/2005
Peer-reviewed
Oui
Volume
65
Number
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
Abstract
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.
Keywords
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
Create date
28/02/2008 10:42
Last modification date
20/08/2019 13:15
Usage data