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Open Access Green as soon as Postprint is submitted to ZB.
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA study group.
Brain 128, 1855-1860 (2005)
The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whether positive cases might affect the specificity of current MSA diagnostic criteria. We genotyped 507 patients with clinically diagnosed or pathologically proven MSA for FMR1 repeat length. Among the 426 clinically diagnosed cases, we identified four patients carrying FMR1 premutations (0.94%). Within the subgroup of patients with probable MSA-C, three of 76 patients (3.95%) carried premutations. We identified no premutation carriers among 81 patients with pathologically proven MSA and only one carrier among 622 controls (0.16%). Our results suggest that, with proper application of current diagnostic criteria, FXTAS is very unlikely to be confused with MSA. However, slowly progressive disease or predominant tremor are useful red flags and should prompt the consideration of FXTAS. On the basis of our data, the EMSA Study Group does not recommend routine FMR1 genotyping in typical MSA patients.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
multiple system atrophy; FXTAS; fragile X; FMRI; premutation
ISSN (print) / ISBN
0006-8950
e-ISSN
1460-2156
Journal
Brain: A Journal of Neurology
Quellenangaben
Volume: 128,
Pages: 1855-1860
Publisher
Oxford University Press
Reviewing status
Peer reviewed
Institute(s)
Institute of Epidemiology (EPI)