Moreover, the ALS patients with three interruptions had shorter CAG than patients with fewer CAA interruptions [40].These observations suggest that besides the CAG repeat size, the discrete changes in ATXN2 gene sequence probably affecting ataxin-2’s physiological function may be a risk factors for ALS development and ‘genetic hits’ facilitating the disease. Here, ATXN2 is linked to amyotrophic lateral sclerosis.