Читать книгу Spectrums of Amyotrophic Lateral Sclerosis - Группа авторов - Страница 33

The rate of gene discovery appears linear, with new ALS genes discovered each year (Figure 2.1a). However, newly discovered genes tend to explain very few ALS cases; and despite the constant discovery rate of genes, the percent of genetically explained cases appears to have plateaued (Figure 2.1b). Nonetheless, there are genes for which there is significant evidence of their involvement and through which we can expand the scope of ALS cell biology theory. Below we discuss three recent gene discoveries, chosen because they were replicated in multiple cohorts or pedigrees.