Article
[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].
Medicina clinica - 18 Jul 2009
Milà Montserrat, Madrigal Irene, Kulisevsky Jaime, Pagonabarraga Javier, Gómez Beatriz, Sánchez Aurora, Rodríguez-Revenga Laia
Abstract excerpt
BACKGROUND AND OBJECTIVES: It has been estimated that 1:1233 males and 1:411 females are FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. PATIENTS AND METHOD: Among 398 fragile X syndrome families, we evaluated 112 premutated carriers older than 50 year. RESULTS: FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers....
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