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Clinical presentation and features of Juvenile-onset Huntington's disease: a systematic review

Cronin, Thomas ORCID:, Rosser, Anne ORCID: and Massey, Thomas ORCID: 2019. Clinical presentation and features of Juvenile-onset Huntington's disease: a systematic review. Journal of Huntington's Disease 8 (2) , pp. 171-179. 10.3233/JHD-180339

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Background: Juvenile-onset Huntington’s disease (JHD) is defined by onset at the age of 20 or younger and represents approximately 5% of all HD cases. Patients with JHD present with a broad range of symptoms and signs that only overlap partially with adult-onset HD. A greater awareness and understanding of the presentation of JHD would improve the diagnosis and treatment of this condition. Objective: To undertake a systematic review of the literature relating to the clinical features at first presentation of JHD. Methods: We searched MEDLINE and EMBASE for all studies describing presenting features of JHD patients, performed quality control, and collated and analysed the data. Results: We screened 2917 records for eligibility, and included 79 studies (n = 285 individuals) in the analysis. All were case reports and case series, synthesising data from 25 different countries. Thirty-four different clinical features at presentation were identified. Four groups of symptoms or signs were present in more than 15% of cases: behavioural disturbance, falls/gait disturbance, cognitive impairment and parkinsonian features. Where data were available, the median age of onset was 9 years, 52% were female, the mutant HTT allele was transmitted paternally in 80% of cases, and the median CAG repeat length was 64. Conclusions: JHD can present with a wide variety of symptoms and signs, with non-motor characteristics being observed most frequently. Greater recognition of these presentations will facilitate early diagnosis and management. Tailored rating scales to score motor, non-motor, and functional impairments specifically in JHD are required to standardise research studies, and are under development.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Biosciences
Publisher: IOS Press
ISSN: 1879-6397
Date of First Compliant Deposit: 25 June 2019
Date of Acceptance: 27 January 2019
Last Modified: 05 Nov 2022 10:40

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