Random forest modelling demonstrates microglial and protein misfolding features to be key phenotypic markers in C9orf72-ALS.

ABSTRACT: Clinical heterogeneity observed across patients with amyotrophic lateral sclerosis (ALS) is a known complicating factor in identifying potential therapeutics, even within cohorts with the same mutation, such as C9orf72 hexanucleotide repeat expansions (HREs). Thus, further understanding of pathways underlying this heterogeneity is essential for appropriate ALS trial stratification and the meaningful assessment of clinical outcomes. It has been shown that both inflammation and protein misfolding can influence ALS pathogenesis, such as the manifestation or severity of motor or cognitive symptoms. However, there has yet to be a systematic and quantitative assessment of immunohistochemical markers to interrogate the potential relevance of these pathways in an unbiased manner. To investigate th

SUBMITTER: Rifai OM 

PROVIDER: S-EPMC9827842 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature