Continuing the search for fluid biomarkers to enhance Huntington disease staging and therapeutic response

In Huntington's disease (HD), a neurodegenerative disorder caused by expanded CAG trinucleotide repeats in the gene HTT encoding the huntingtin protein, mutation carriers produce abnormally long polyglutamine sequences that predispose the protein to fragmentation, causing neuronal dysfunction and death. Clinically, this results in characteristic choreiform movements, behavioral disturbances, and dementia [1]. As disease-modifying therapies continue to move toward fruition, it would be paramount to bring them to those who are premanifest at the earliest timepoint along the disease spectrum to maximize benefits and intervene prior to the initiation of irreversible neuronal damage.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research