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
Institution
Title
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
Journal
Neurology
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
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 11:42
Last modification date
20/08/2019 14:15
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