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Huntington’s disease as a multi-system disorder

Speaker: Associate Professor Svetlana Kopishinskaia, MD (Hons), PhD (Neurology), Russia

Leading Expert, ICERN, Samara State Medical University, Samara, Russia Department of Neurology, Neurosurgery and Neurorehabilitation, Kirov State Medical University, Kirov, Russia; JSC «First Genetics», Skolkovo, Moscow, Russia European Academy of Neurology Member, British Academy of Neurology Member, European Huntington’s Disease Network Member Title: Huntington’s disease as a multi-system disorder — Russian Abstract.
Huntington’s disease (HD) is a steadily progressive neurodegenerative disease caused by a mutation in the huntingtin gene consisting of an excessive number of CAG (cytosine-adenine-guanine) repeats (McColgan & Tabrizi, 2018; Mills et al., 2020). The disease has an autosomal dominance inheritance mechanism with complete penetrance, and manifests in progressive motor, cognitive and mental impairments, which lead to worsening disability and decreased life expectancy (McColgan & Tabrizi, 2018). Many years preceding the onset of HD motor symptoms, a range of systemic non-motor manifestations appear, including weight loss, skeletal muscle atrophy, impaired glucose tolerance, osteoporosis, heart failure, gastrointestinal pathology, testicular atrophy, sleep disturbances, circadian cycle disorders, autonomic disturbances, and increased energy metabolism (Epping et al., 2016). These early HD manifestations are clinically very important, as they reduce the patient’s quality of life, correlate with the progression of motor symptoms, and can independently lead to mortality. The purpose of this review is to summarize the recent literature on systemic non-motor symptoms of HD, which may eventually present targets for the development of new methods for diagnosis and treatment of these symptoms.