晚发性患者的临床和基因档案的巴西弗里德希氏共济失调(P2.031)

文摘

目的:探讨晚发性Friedreich共济失调的临床和遗传特征在巴西系列(法)。背景:弗里德希氏共济失调(FDRA)是世界范围内最常见的遗传性共济失调。病人通常有早发性共济失调,arreflexia Bisbisnski的迹象,脊柱侧凸pes和,但至少25%的病例有非典型表型。疾病在25岁以后开始偶尔病人(晚发性Friedreich ataxia-LOFA)。对LOFA-patients的频率和临床资料。设计/方法:连续六十二患者的分子确认FDRA和随后在巴西2门诊中心登记。一般人口统计学,棉酚扩张、发病年龄、临床特点进行评估和比较中法和经典FDRA (cFDRA)组。我们使用Mann-Whitney和费舍尔测试手段和组织之间的比例进行比较,p值< 0.05被认为是重要的。结果:有9/62(14.5%)法和53/62 (85.5%)cFDRA病人。有3个人在cFDRA法组和27。的发病年龄平均年龄和cFDRA法组和23.5±7.9和55.3±11.51年(p < 0.001),和11.1±5.58 vs . 36±7.46年(p < 0.001),分别。法组短GAA-expansions (GAA1: 328.6±180和492.8±263.7 p < 0.001; GAA2: 761.8 ±198.8 vs.923.5±83.1, p<0.001).One of the LOFA families presented a pseudo-dominant inheritance pattern. Spasticity and sustained reflexes were found in 4/9 (44.4%) patients with LOFA but in none of cFRDA-patients. Skeletal deformities were less frequent in LOFA group (pes cavus 11.1% vs. 79.2% p<0.001, and scoliosis 22.2% vs 56.6% p=0.07). Cardiomyopathy (11.1% vs.32%) and diabetes/impaired glucose tolerance (0% vs.17%) were slightly more frequent in the cFRDA group but differences did not reach statistical significance (p=0.263 and 0.333 respectively). CONCLUSIONS:LOFA accounts for 14.5% of Brazilian FRDA patients. Remarkable pyramidal signs and rare skeletal deformities could distinguish LOFA from cFRDA. This unusual phenotype often makes LOFA diagnosis challenging, so that clinicians should be aware of this FRDA variant. Study Supported by:

披露:马丁内斯博士没有披露。博尔赫斯博士没有披露。席尔瓦博士没有披露。莫罗博士没有披露。Rezende博士没有披露。Moscovich博士没有披露。穆尼奥斯博士没有披露。阿鲁达博士没有披露。Karuta博士没有披露。博士D 'Abreu已收到个人补偿活动与罗氏诊断公司,诺华和EMS。 Dr. Lopes-Cendes has nothing to disclose. Dr. Franca, Jr. has nothing to disclose. Dr. Teive has nothing to disclose.