A Cutaneous Biomarker for ALS?

Early diagnosis of amyotrophic lateral sclerosis (ALS) remains difficult due to its heterogeneous presentations, overlap with other neurologic disorders, and lack of reliable confirmatory biomarkers. Cytoplasmic aggregation of phosphorylated TAR DNA-binding protein 43 (pTDP-43) in motor neurons and glial cells is a pathologic hallmark of ALS detected postmortem.

To examine pTDP-43 as a potential premortem biomarker, investigators used immunofluorescence to assess pTDP-43 in skin biopsies (e.g., fingertips, lower extremities) from 50 patients with sporadic ALS and compared them with biopsies from healthy participants and participants with other neuromuscular conditions.