Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. About 10% of all ALS cases are familial (FALS), and constitute a clinically and genetically heterogeneous entity. To date, FALS has been linked to mutations in 10 different genes and to four additional chromosomal loci. Research on FALS genetics, and in particular the discoveries of mutations in the SOD1, TARDBP, and FUS genes, has provided essential information toward the understanding of the pathogenesis of ALS in general. This review presents a tentative classification of all FALS-associated genes identified so far.

中文翻译：

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家族性肌萎缩性侧索硬化症的遗传学。

肌萎缩性侧索硬化症（ALS）是由大脑和脊髓中的运动神经元缺失引起的，起病较晚，进展迅速并最终致命的神经退行性疾病。在所有ALS病例中，约有10％是家族性（FALS），构成临床和遗传上的异质实体。迄今为止，FALS已与10个不同基因的突变和四个其他染色体基因座相关。对FALS遗传学的研究，尤其是对SOD1，TARDBP和FUS基因突变的发现，为了解ALS的发病机理提供了重要信息。这篇评论提出了到目前为止已鉴定的所有与FALS相关的基因的初步分类。