Article
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.
Brain : a journal of neurology - 1 Aug 2005
Kamm C, Healy D G, Quinn N P, Wüllner U, Moller J C, Schols L, Geser F, Burk K, Børglum A D, Pellecchia M T, Tolosa E, del Sorbo F, Nilsson C, Bandmann O, Sharma M, Mayer P, Gasteiger M, Haworth A, Ozawa T, Lees A J, Short J, Giunti P, Holinski-Feder E, Illig T, Wichmann H E, Wenning G K, Wood N W, Gasser T
Abstract excerpt
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...
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