Huntington's disease: diagnosis and management.

Autor:	Stoker TB; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK tbs26@cantab.net., Mason SL; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Greenland JC; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Holden ST; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Santini H; Huntington Disease Association, Liverpool, UK., Barker RA; John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Wellcome Trust Medical Research Council - Cambridge Stem Cell Institute, Cambridge, UK.
Jazyk:	angličtina
Zdroj:	Practical neurology [Pract Neurol] 2022 Feb; Vol. 22 (1), pp. 32-41. Date of Electronic Publication: 2021 Aug 19.
DOI:	10.1136/practneurol-2021-003074
Abstrakt:	Huntington's disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. This has become increasingly important recently, with several putative disease-modifying therapies entering trials. A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing. Current treatments are symptomatic, and largely directed at the chorea and neurobehavioural problems, although supporting trial evidence for these is often limited. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu