TDP-43 in nerve bundles- a novel diagnostic biomarker for Amyotrophic Lateral Sclerosis

A dual case-control study of 10 autopsied patients with sporadic amyotrophic lateral sclerosis (SALS) were confirmed to have phosphorylated transactive response DNA-binding protein 43 (pTDP- 43)–positive axons in intramuscular nerve bundles. The findings of the study are published in JAMA Open Network.

The study comprised of two parts, a postmortem case-control study and a retrospective population-based cohort study with a minimum of 1 year of follow-up. The postmortem study included patients with sporadic ALS (SALS) with TDP-43 pathology and control patients with non-ALS disease.

It was seen that a total of 10 patients with autopsy-confirmed Sporadic ALS exhibited axonal phosphorylated TDP-43 (pTDP-43)–positive accumulations in intramuscular nerve bundles. Among the 114 patients, 62.3% exhibited intramuscular nerve bundles.

Among those who exhibited phosphorylated transactive response DNA-binding protein 43-positive intramuscular nerve bundles, 33 patients were later diagnosed with the condition. Among those without evident nerve bundles, 3 were later diagnosed with ALS.

Researchers hence, concluded that axonal phosphorylated transactive response DNA-binding protein 43 accumulations may be characteristic for patients with ALS and that it can be a novel diagnostic biomarker for ALS.