Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism.
Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D, Phatnani H, Kwan J, Sareen D, Broach JR, Simmons Z, Arcila-Londono X, Lee EB, Van Deerlin VM, Shneider NA, Fraenkel E, Ostrow LW, Baas F, Zaitlen N, Berry JD, Malaspina A, Fratta P, Cox GA, Thompson LM, Finkbeiner S, Dardiotis E, Miller TM, Chandran S, Pal S, Hornstein E, MacGowan DJ, Heiman-Patterson T, Hammell MG, Patsopoulos NA, Dubnau J, Nath A, Phatnani H, Shneider NA, and Manley JL. Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism. Elife 2018; 7:e37754.
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions of the RNA-binding protein (RBP) TDP-43, and often the presence of a GGGGCC expansion in the
Medical Subject Headings
Amyotrophic Lateral Sclerosis; Brain; C9orf72 Protein; DNA-Binding Proteins; Frontotemporal Dementia; Heterogeneous-Nuclear Ribonucleoproteins; Humans; Mutagenesis, Insertional; Polypyrimidine Tract-Binding Protein; RNA Splicing