Loss of protein quality control in C9orf72 amyotrophic lateral sclerosis/frontotemporal dementia


  • TAR DNA-binding protein 43 (TDP-43) inclusion body formation is impaired in C9orf72-related amyotrophic lateral sclerosis with frontotemporal lobar degeneration (ALS/FTLD).

Why this matters

    Heterogeneity of TDP-43-associated pathology between sporadic and genetic cases of ALS/FTLD may have distinct clinical and pathophysiologic implications.