Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study
Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study
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DOI：
10.1136/jnnp.2010.235952
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发表时间：
2011-07-01
影响因子：
11
通讯作者：
Mora, Gabriele
中科院分区：
文献类型：
--
作者：
Chio, Adriano;Calvo, Andrea;Mora, Gabriele
肌萎缩侧索硬化症（ALS）的不同表现型已被确认，其特征在于脊髓和延髓上下运动神经元的不同受累。然而，这些表型的差异特征仍然在很大程度上unknow.Objective定义的流行病学和结果的ALS表型在人口为基础setting.Methods所有ALS病例事件在两个意大利地区前瞻性收集从1995年至2004年在流行病学登记。结果1351例ALS患者中，有1332例（98.6%）具有ALS表型，其中1332例（98.6%）具有典型型、延髓型、连枷臂型、连枷腿型、锥体型、呼吸型、纯下运动神经元型（PLMN）和纯上运动神经元型（PPLN）。经典型和延髓型的平均年发病率相似。性别特异性发病率显示男性在呼吸、连枷臂、经典和PLMN表型中占优势;在所有其他表型中，男性和女性的发病率相似。发病年龄在锥体，PLMN和CRN表型中显着降低，而在延髓表型中显着升高。最好的结果是观察在肌萎缩侧索神经，锥体，PLMN和连枷臂表型和最差的呼吸和延髓phenotypes.Conclusions我们的流行病学研究结果表明，ALS表型进行独特的，易于区分的临床和预后特征，强烈相关的性别和年龄之间的复杂的相互作用。根据更同质的临床组对ALS患者进行分类与确定ALS的生物学标志物相关，应考虑用于临床试验的设计。
Background Different amyotrophic lateral sclerosis (ALS) phenotypes have been recognised, marked by a varying involvement of spinal and bulbar upper and lower motor neurons. However, the differential characteristics of these phenotypes are still largely unknown.Objective To define the epidemiology and outcome of ALS phenotypes in a population based setting.Methods All ALS cases incident in two Italian regions were prospectively collected from 1995 to 2004 in an epidemiological register. Cases were classified according to established ALS phenotypes: classic, bulbar, flail arm, flail leg, pyramidal, respiratory, pure lower motor neuron (PLMN) and pure upper motor neuron (PUMN).Results ALS phenotype were determined in 1332 out of 1351 incident patients (98.6%). Classic and bulbar phenotypes had similar mean annual incidence rates. Gender specific incidence rates showed a male preponderance in respiratory, flail arm, classic and PLMN phenotypes; in all other phenotypes, men and women had similar incidence rates. Age at onset was significantly lower in pyramidal, PLMN and PUMN phenotypes and higher in the bulbar phenotype. The best outcomes were observed in PUMN, pyramidal, PLMN and flail arm phenotypes and the worst in respiratory and bulbar phenotypes.Conclusions Our epidemiological findings suggest that ALS phenotypes carry distinctive and easily distinguishable clinical and prognostic characteristics, strongly related to a complex interplay between gender and age. The categorisation of ALS patients according to more homogenous clinical groups is relevant in identifying biological markers for ALS and should be considered for the design of clinical trials.