Clinical Presentation and Features of Juvenile-Onset Huntington's Disease: A Systematic Review

被引:38
作者
Cronin, Thomas [1 ,3 ]
Rosser, Anne [2 ,3 ,4 ]
Massey, Thomas [3 ,4 ]
机构
[1] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne, Tyne & Wear, England
[2] Cardiff Univ, Brain Repair Grp, Sch Biosci, Cardiff, S Glam, Wales
[3] Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Div Psychol Med & Clin Neurosci, Sch Med, Cardiff, S Glam, Wales
[4] Brain Res & Intracranial Neurotherapeut BRAIN Uni, Cardiff, S Glam, Wales
基金
英国医学研究理事会;
关键词
Huntington's disease; juvenile onset Huntington's disease; review; diagnosis; signs and symptoms;
D O I
10.3233/JHD-180339
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:171 / 179
页数:9
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