Prevalence of SOD1 mutations in the Italian ALS population
Prevalence of SOD1 mutations in the Italian ALS population
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DOI：
10.1212/01.wnl.0000299187.90432.3f
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发表时间：
2008-02-12
期刊：
影响因子：
9.9
通讯作者：
Restagno, G.
中科院分区：
文献类型：
--
作者：
Chio, A.;Traynor, B. J.;Restagno, G.
背景：据报道，有5％至10％的肌萎缩性侧面硬化症（ALS）病例为家族性（fals），SOD1的突变占这些病例的20％。然而，SOD1突变患病率的估计已仅基于病例系列和临床转诊同伙。目标：评估在6年内被诊断为ALS的大型意大利患者中SOD1突变的频率和性质。方法：意大利Piemonte和Valle d'Aosta中的所有ALS病例均通过前瞻性流行病学登记册收集。在2000年至2005年的6年期间，几乎所有ALS居民居民（都灵）居住在Piemonte（都灵）（都灵）的患者均已评估SOD1突变。诊断：在研究期间，都灵省的386名居民被诊断出患有ALS（平均粗糙2.9/100,000/年的发病率）。 22名患者（5.7％）的ALS家族史为积极。 SOD1分析在325例患者（占整个队列的84.2％）中进行，包括所有伪造病例。五名患者携带SOD1编码突变，三个患有ALS的家族史（占fals的13.6％），在零星病例中有2例（占零星ALS的0.7％）。结论：在这个基于人群的序列中（fals）低于ALS推荐中心的串联报道。虽然fal中的SOD1突变的频率与文献报道的数据相似，但只有0.7％的零星ALS病例具有SOD1突变。我们的数据表明，来自推荐中心的研究可能高估了零星ALS中伪造和SOD1突变的频率。
Background: Five to 10% of amyotrophic lateral sclerosis (ALS) cases are reported to be familial (FALS), and mutations of SOD1 account for 20% of these cases. However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts.Objective: To assess the frequency and nature of SOD1 mutations in a large population-based cohort of Italian patients diagnosed with ALS over a 6-year period.Methods: All ALS cases incident in Piemonte and Valle d'Aosta, Italy, are collected through a prospective epidemiologic register. Almost all patients with ALS resident in the largest province of Piemonte ( Turin) have been evaluated for SOD1 mutations in the 6-year period 2000 through 2005.Results: During the study period, 386 residents of Turin province were diagnosed with ALS (mean crude incidence rate of 2.9/100,000/year). Twenty-two patients (5.7%) had a positive family history of ALS. SOD1 analysis was performed in 325 patients (84.2% of the whole cohort), including all FALS cases. Five patients carried a SOD1 coding mutation, three with a family history of ALS (13.6% of FALS) and two in sporadic cases (0.7% of sporadic ALS).Conclusions: In this population-based series, the frequency of familial amyotrophic lateral sclerosis (FALS) was lower than that reported in series from ALS referral centers. While the frequency of SOD1 mutations in FALS was similar to the data reported in the literature, only 0.7% of sporadic ALS cases had a SOD1 mutation. Our data indicate that studies from referral centers may overestimate the frequency of FALS and of SOD1 mutations in sporadic ALS.