A CSF protein study identified genetic signatures linked to frontotemporal lobar degeneration
Original source
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration. (opens in a new tab)Compass summarised this from the study's abstract.
Study details
- Studied in
- Human
Researchers measured more than 2,900 proteins in cerebrospinal fluid (CSF) from people with genetic or clinically diagnosed frontotemporal lobar degeneration (FTLD). They found differences linked to C9orf72, GRN and MAPT genetic groups and developed protein panels that distinguished FTLD-spectrum disorders from controls in a validation cohort. The study included one symptomatic and one presymptomatic TARDBP carrier, but it was not a treatment study for amyotrophic lateral sclerosis (ALS).
Why this matters
The findings may help researchers develop CSF tests for FTLD and distinguish underlying TDP pathology from controls. However, the results do not yet change treatment or establish a diagnostic test for people with ALS or motor neurone disease (MND).
Limitations and context
This was a primary research study using targeted proteomics. The discovery cohort included 47 symptomatic and 124 presymptomatic pathogenic-variant carriers, while the validation cohort included 132 people with clinically diagnosed FTLD-spectrum disorders and 32 cognitively intact controls. The diagnostic panels were replicated in this study, but further validation would be needed before clinical use. The study included only one symptomatic and one presymptomatic TARDBP carrier, so it provides very limited evidence about that gene group or ALS/MND.