Extensive genetics of ALS A population-based study in Italy
Extensive genetics of ALS A population-based study in Italy
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DOI：
10.1212/wnl.0b013e3182735d36
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发表时间：
2012-11-01
期刊：
影响因子：
9.9
通讯作者：
Restagno, Gabriella
中科院分区：
文献类型：
--
作者：
Chio, Adriano;Calvo, Andrea;Restagno, Gabriella
目的：为了评估的频率和临床特征的主要肌萎缩侧索硬化症（ALS）的基因突变的患者在一个前瞻性的确定，人口为基础的流行病学系列cases.Methods：研究人群包括所有的ALS确诊病例在皮埃蒙特，意大利，从2007年1月至2011年6月。结果：475例ALS患者中，51例（10.7%）携带ALS相关基因突变（C9 ORF 72，32例; SOD 1，10例; TARDBP，7例; FUS，1例; OPTN，1例; ANG，0例）。46例（9.7%）患者有ALS或额颞叶痴呆（FTD）阳性家族史。46例家族性病例中31例（67.4%）和429例散发病例中20例（4.7%）有基因突变。根据逻辑回归模型，除了ALS或FTD的阳性家族史外，携带基因突变的机会与合并FTD的存在（比值比3.5; p = 0.001）和发病年龄相关
Objective: To assess the frequency and clinical characteristics of patients with mutations of major amyotrophic lateral sclerosis (ALS) genes in a prospectively ascertained, population-based epidemiologic series of cases.Methods: The study population includes all ALS cases diagnosed in Piemonte, Italy, from January 2007 to June 2011. Mutations of SOD1, TARDBP, ANG, FUS, OPTN, and C9ORF72 have been assessed.Results: Out of the 475 patients included in the study, 51 (10.7%) carried a mutation of an ALS-related gene (C9ORF72, 32; SOD1, 10; TARDBP, 7; FUS, 1; OPTN, 1; ANG, none). A positive family history for ALS or frontotemporal dementia (FTD) was found in 46 (9.7%) patients. Thirty-one (67.4%) of the 46 familial cases and 20 (4.7%) of the 429 sporadic cases had a genetic mutation. According to logistic regression modeling, besides a positive family history for ALS or FTD, the chance to carry a genetic mutation was related to the presence of comorbid FTD (odds ratio 3.5; p = 0.001), and age at onset