On Jan. 31, 2024, researchers at the National Institutes of Health detected abnormal proteins in the spinal fluid of people with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), which could help improve diagnosis of these diseases. The findings were published in Science Translational Medicine.

The proteins in question are built from ﾓcrypticﾔ exonsﾗabnormal portions of RNA, the cellﾒs instructions for how to build proteins. Cryptic exons occur when TDP-43, a protein that regulates how RNA is processed, stops functioning normally. TDP-43 dysfunction is linked to ALS, FTD, Alzheimerﾒs disease, and Limbic Associated TDP-43 Encephalopathy (LATE).