Progress in Huntington’s disease: the search for markers of disease onset and progression

Abstract

Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepare for therapeutic trials of disease-modifying compounds, extensive work has gone into (1) finding ways of better predicting the onset of disease in pre-manifest HD gene carriers (PMGC), (2) defining the extent of non-motor features of HD and (3) identifying robust and reliable tests by which to measure disease progression. In this short review, we summarise some of the major findings in this area of clinical research.

Metabolomics of Neurodegenerative Diseases

“…The resultant mutant protein is believed to be neurotoxic although the exact pathophysiology of this disease has yet to be understood. With current treatments being solely symptomatic, better understanding of the disease mechanism and the subsequent development of novel therapies is desperately needed (Mason & Barker, 2015). As reviewed in Table 3, very few metabolomics studies have been done in HD Reduced oxidized glutathione Amara and Standaert (2013) Human Serum Mass spec.…”

New Directions in Therapeutics for Huntington Disease

“…A useful biomarker should reflect a change in response to disease progression, as well as to modification by treatment. It is also important to more accurately identify and measure subtler symptoms (e.g., cognitive, mood, sleep disorders and brain atrophy) while the patients are still in the prodromal stage, before overt motor symptoms have begun [5][6][7].…”