Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.

Karin ForsbergKarin GraffmoBente PakkenbergMarkus WeberMartin NielsenStefan MarklundThomas BrännströmPeter Munch Andersen

Published in: Journal of neurology, neurosurgery, and psychiatry (2019)

Abundant inclusions containing misfolded SOD1WT are found in spinal and cortical motor neurons in patients carrying mutations in six ALS-causing genes other than SOD1. This suggests that misfolding of SOD1WT can be part of a common downstream event that may be pathogenic. The new anti-SOD1 therapeutics in development may have applications for a broader range of patients.

Keyphrases

amyotrophic lateral sclerosis
end stage renal disease
ejection fraction
newly diagnosed
spinal cord
gene expression
spinal cord injury
transcription factor