Marka van Blitterswijk

Keywords C9orf72 ALS FTD Xbp1 unfolded protein response neuronal vulnerability ERAD Drosophila protein homeostasis C9 Research topic(s) CP: Neuroscience CP: Molecular biology Introduction Dementia, the most common neurodegenerative syndrome, is currently one of the leading causes of death in industrialized countries, affecting nearly 50 million people worldwide.1 Concerted research efforts have successfully identified many of the causative agents of dementia: misprocessed Aβ peptides trigger...

1. Introduction SOD1, encoding the copper–zinc superoxide dismutase, was the first gene to be associated with amyotrophic lateral sclerosis (ALS) (1), and it is currently the second most common genetic cause of ALS, after the C9ORF72 expansion, in Caucasian patients (2). Thus far, more than 200 pathogenic mutations in SOD1 have been identified in patients with ALS (3) and, overall, they account for up to 20% of familial forms (fALS) and 1%–2% of sporadic cases (sALS) (4).

Noncoding expanded repeats have been implicated in a wide range of diseases. A new report uncovers expanded TTTCA and TTTTA repeats in an intronic region of SAMD12, and at least two other genes, in individuals with benign adult familial myoclonic epilepsy.