TY - T1的临床和基因档案的巴西患者迟发性的弗里德希氏共济失调(P2.031) JF -神经学乔-神经学六世- 82 - 10补充SP - P2.031盟阿尔贝托·马丁内斯AU -多•博尔赫斯盟辛西娅Bonilha Da Sil首页va AU -阿德里亚娜摩洛盟蒂亚戈Rezende AU -马里亚纳Moscovich AU -雷纳托穆尼奥斯AU -沃尔特·阿鲁达盟Simone Karuta AU - Anelyssa D 'Abreu盟Iscia Lopes-Cendes AU - Marcondes语言,Jr . AU -赫利奥Teive Y1 - 2014/04/08 UR - //www.ez-admanager.com/content/82/10_Supplement/P2.031.abstract N2 -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,脊柱侧弯和pes和,但至少25%的病例有典型的表型。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& lt; 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。 Mean age and age at onset of cFDRA and LOFA groups were 23.5±7.9 vs. 55.3±11.51 years (p<0.001), and 11.1±5.58 vs. 36±7.46 years (p<0.001), respectively. LOFA group had shorter GAA-expansions (GAA1: 328.6±180 vs. 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:Disclosure: Dr. Martinez has nothing to disclose. Dr. Borges has nothing to disclose. Dr. Silva has nothing to disclose. Dr. Moro has nothing to disclose. Dr. Rezende has nothing to disclose. Dr. Moscovich has nothing to disclose. Dr. Munhoz has nothing to disclose. Dr. Arruda has nothing to disclose. Dr. Karuta has nothing to disclose. Dr. D'Abreu has received personal compensation for activities with Roche Diagnostics Corp., Novartis, and EMS. Dr. Lopes-Cendes has nothing to disclose. Dr. Franca, Jr. has nothing to disclose. Dr. Teive has nothing to disclose.Tuesday, April 29 2014, 7:30 am-11:00 am ER -