Unravelling the role of patient-derived dipeptide repeat proteins in the C9orf72 expansion-related pathogenesis. KU Leuven
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two different disorders characterized by a distinctive pattern of neurodegeneration. However, ALS and FTLD also display overlapping clinical features (e.g. cognitive and motor impairment), neuropathological hallmarks (e.g. TDP-43 pathology), and monogenetic causes in a subset of the patients. With respect to the latter, the hexanucleotide repeat expansion in a ...