PT -期刊文章盟Estrella Gomez-Tortosa AU -耶稣加利西亚语盟罗莎Guerrero-Lopez AU -阿尔贝托·马科斯盟Eulogio Gil-Neciga AU -玛丽亚穆盟赢面亚松森Diaz盟玛丽亚·约瑟夫-埃米利奥•Franco-Macias盟Trujillo-Tiebas AU -卡门Ayuso盟朱利安Perez-Perez TI - < em > C9ORF72 < / em > hexanucleotide扩张的重复与额颞叶- 10.1212 / WNL恶化援助。0 b013e31827f08ea DP - 2013年1月22日TA -神经首页病学第六PG - 366 - 370 - 80 IP - 4 4099 - //www.ez-admanager.com/content/80/4/366.short 4100 - //www.ez-admanager.com/content/80/4/366.full所以Neurology2013 1月22日;80 AB -目的:扩张C9ORF72 30多个hexanucleotide重复的基因是一个常见的原因额颞叶痴呆(FTD)或肌萎缩性脊髓侧索硬化症(ALS)。然而,重复20 - 30的范围是很少发现,仍有不清楚的意义。我们群的筛选例FTD (n = 109)显示4突变携带者(祝辞30重复),还5渊源者-重复确认。本研究探讨了可能的致病相关的-重复扩张扩张(短)。方法:比较有长期和短期扩张的临床表型之间的案件;寻找隔离的家庭渊源者与短扩张;分析存在的共同创始人单体型,描述为扩张在30重复,在简短的扩张;和分析hexanucleotide重复等位基因的分布控制人口。结果:未发现不同的模式在疾病的临床表型或攻击性比较例长或短的扩张。两组病例有精神症状在1 - 3年进化之前在不知不觉中认知恶化。 The study of the families with short expansion showed clear segregation of the 20–22 repeats allele with the disease. Moreover, this 20–22 repeats allele was associated in all cases with the pathogenic founder haplotype. None of 216 controls had alleles with more than 14 repetitions.Conclusions: Description of these families suggests that short C9ORF72 hexanucleotide expansions are also related to frontotemporal cognitive deterioration.ALS=amyotrophic lateral sclerosis; FTD=frontotemporal dementia