Biomarkers for the early-detection and monitoring of Huntington’s Disease

David W. Salzman*, Joli Bregu^, Nathan S. Ray*, and Richard H. Myers*^
*sRNAlytics Inc. AstraZeneca BioHub Incubator, 35 Gatehouse Drive, Waltham MA, 02451
^Boston University Medical School, Department of Neurology, 72 East Concord Street, Boston, MA, 02118

Huntington’s Disease (HD) is a genetic disease caused by a CAG trinucleotide repeat in Exon1 of the huntingtin gene. Neurodegeneration results in the loss of cognitive and motor functions, and is caused by aggregation of mutant huntingtin protein in striatal neurons. Volumetric changes in the striatum can be detected decades before the manifestation of clinical phenotypes, indicating that therapeutic intervention would need to occur long before symptomatic presentation. In clinical practice and research settings, the Unified Huntington’s Disease Rating Scale (UHDRS) is utilized to evaluate a patients overall physical and neurological health. UHDRS is also the most widely used outcome measure for establishing drug efficacy. However, …