Clinical and research advances in Huntington's disease.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by abnormalities of movement and dementia. No curative treatment is available and HD results in gradually increasing disability. Characterization of the genetic abnormality has dramatically increased our understanding of the underlying mechanisms of the disease process, and has resulted in the development of a number of genetic models. These research tools are forming the basis of advanced work into the diagnosis, pathophysiology, and potential treatment of the disease. Clinically, the availability of genetic testing has eased confirmation of diagnosis in symptomatic individuals. Presymptomatic testing allows at-risk individuals to make informed choices but requires supportive care from physicians. Current clinical treatment is focused on symptom control. Advances in research have resulted in the development of potential neuroprotective strategies which are undergoing clinical testing.
SuttonBrown
M
M
Department of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada.
Suchowersky
O
O
D000818:Animals; D004195:Disease Models, Animal; D005544:Forecasting; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D008403:Mass Screening / Q000639:trends; D051379:Mice; D008822:Mice, Transgenic; D012106:Research / Q000639:trends