A new study led by Marka van Blitterswijk from the Mayo Clinic in Jacksonville, Florida, found elevated levels of the protein Transthyretin (TTR) in the cerebellum of ALS or frontotemporal dementia (FTD) patients carrying C9ORF72 mutations, as compared to disease patients not carrying the mutation or patients with other neurological conditions. At the Annual American Academy of Neurology Meeting in Washington, D.C., the researchers presented data of both elevated RNA expression in C9ORF72 ALS patient autopsies, as well as increased protein levels in the cerebrospinal fluid (CSF) and plasma collected from living patients. The role of TTR in ALS is unclear, but its presence in the CSF may confer neuroprotective properties, since the cerebellum does not degenerate in ALS. The ability to detect TTR in biofluids suggests that TTR holds promise as readily detectable biomarker for this subgroup of ALS patients. Longitudinal studies are underway to evaluate whether TTR can also serve as a biomarker of disease progression, and have utility in ALS clinical trials.
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