From Pathophysiology to Treatment of Huntington's Disease

Abstract

She has complemented her education with a variety of clinical and research fellowships in Germany, Spain, Austria, and the USA. Her main area of interest are movement disorders such as tics, Parkinson's, and Huntington's Disease. She is secretary of the European Society for the Study of Tourette's Syndrome and co-author of the new European guidelines issued by this society, as well as an author of more than 50 publications and book chapters, mainly dedicated to movement disorders. PrefaceHuntington's Disease (HD) is a neurodegenerative disease caused by the autosomal dominant mutation, in particular, CAG trinucleotide expansion, in the huntingtin gene on chromosome 4. It is characterized by complex phenomenology, in particular, cognitive, motor, and psychiatric symptoms. When it comes to pathophysiology, it has been demonstrated that mutant huntingtin leads to neuronal death via a number of mechanisms such as mitochondrial abnormalities, disruption of protein regulation, and direct toxicity of the mutant protein. Early changes are mainly detected in the striatum, but also the cortex as the disease progresses. In recent years there have been significant advances in research dedicated to HD biomarkers, diagnosis, and, finally, therapy. To date, only symptomatic treatment has been available. With the consequent urgent need for studies to identify new targets for therapeutic interventions, not only is research focused on the development of new treatments of utmost importance, but basic science, neuroimaging and biomarkers are also relevant. With this book, we would like to raise awareness of the most up-to-date HD science. We hope that it will be of use to both experts and the general public.