S铆ndrome de temblor y ataxia asociado a s铆ndrome del cromosoma X fr谩gil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del s铆ndrome del cromosoma X fr谩gil
- 作者：Montserrat Milà ; <sup>asup><sup> ; sup><sup>bsup><sup> ; sup><sup>csup><sup> ; sup><sup>mmila@clinic.ub.essup> ; Irene Madrigal<sup>asup><sup> ; sup><sup>csup> ; Jaime Kulisevsky<sup>dsup><sup> ; sup><sup>esup> ; Javier Pagonabarraga<sup>dsup><sup> ; sup><sup>esup> ; Beatriz Gó ; mez<sup>fsup> ; Aurora Sá ; nchez<sup>asup><sup> ; sup><sup>bsup><sup> ; sup><sup>csup> ; Laia Rodrí ; guez-Revenga<sup>asup><sup> ; sup><sup>csup>
- 关键词：Sí ; ndrome de temblor y ataxia asociado a X frá ; gil ; Ataxia cerebelosa ; Sí ; ndrome temblor y ataxia ; Premutació ; n ; Sí ; ndrome del cromosoma X frá ; gil
- 刊名：Medicina Cl铆nica
- 出版年：2009
- 期刊代码：pca254_00257753
- 类别：med
- 出版时间：18 July 2009
- 卷：133
- 期：7
- 页码：252-254
- 文件大小：135 K
摘要
ss="h4">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.
ss="h4">Patients and method
Among 398 fragile X syndrome families, we evaluated 112 premutated carriers older than 50 year.
ss="h4">Results
FXTAS penetrance among fragile X families was 10.7%for female premutated carriers and 29.7%for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome.
ss="h4">Conclusions
Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken into account among spinocerebelar ataxia patients with an unknown etiology.