Cronin, Thomas  ORCID: https://orcid.org/0000-0001-9522-3992, Rosser, Anne ORCID: https://orcid.org/0000-0002-4716-4753 and Massey, Thomas ORCID: https://orcid.org/0000-0002-9804-2131
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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Abstract
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: | Schools > Biosciences Schools > Medicine |
| Publisher: | IOS Press |
| ISSN: | 1879-6397 |
| Date of First Compliant Deposit: | 25 June 2019 |
| Date of Acceptance: | 27 January 2019 |
| Last Modified: | 09 Nov 2024 05:45 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/121517 |
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