NIH R01 · 2024
Modeling the progression of SOD1-linked motor neuron disease
In the past 5 years, it has become clear that the protein pathology of many human neurodegenerative diseases exhibits characteristics of prions, including transmissibility, strain variation, and the ability to spread from a focal site of introduction. Amyotrophic lateral sclerosis (ALS) stands out as an example where the hallmarks of prion-like spreading is evident as weakness spreads along anatomically connected pathways. In familial ALS caused by mutations in superoxide dismutase 1 (SOD1-ALS), patients inheriting the A4V variant of SOD1 weakness spreads rapidly (average survival <1.5 years after the onset), whereas in patients inheriting the G37R variant weakness spreads slowly (average…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.