Capelli Leonardo P, Gonçalves Márcia R R, Kok Fernando, Leite Cláudia C, Nitrini Ricardo, Barbosa Egberto R, Vianna-Morgante Angela M
Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
Mov Disord. 2007 Apr 30;22(6):866-70. doi: 10.1002/mds.21347.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurological progressive disorder associated with the FMR1 gene premutation. We report on variable presentation of findings associated with FXTAS in 3 brothers aged 68, 74, and 73 years, carrying premutation alleles of (CGG)(123,) (CGG)(109), and (CGG)(91) triplets, respectively. Based on previously proposed diagnostic criteria for the syndrome, clinical and radiological data allowed establishing a "definite" diagnosis of FXTAS in the two carriers of the longest (CGG)(n). The carrier of the (CGG)(91) allele, although presenting a major radiological sign of the syndrome (symmetrical white-matter lesions in the middle cerebellar peduncles), did not have any significant neurological manifestation at 73 years of age.
脆性X相关震颤/共济失调综合征（FXTAS）是一种与FMR1基因前突变相关的神经退行性疾病。我们报告了3名分别为68岁、74岁和73岁的兄弟，他们分别携带（CGG）（123）、（CGG）（109）和（CGG）（91）三联体前突变等位基因，FXTAS相关表现存在差异。根据先前提出的该综合征诊断标准，临床和影像学数据使得对携带最长（CGG）（n）的两名携带者确诊为FXTAS。携带（CGG）（91）等位基因的患者，尽管出现了该综合征的一个主要影像学特征（小脑中间脚对称性白质病变），但在73岁时未出现任何明显的神经学表现。
