SUMMARY Huntington’s disease (HD) is a well-recognized progressive neurodegenerative disorder that follows an autosomal dominant pattern of inheritance. Onset is insidious and can occur at almost any age, but most commonly the diagnosis is made between the ages of 35 and 55 years. Onset ≤20 years of age is classified as juvenile HD (JHD). This age-based definition is arbitrary but remains convenient. There is overlap between the clinical pathological and genetic features seen in JHD and more traditional adult-onset HD. Nonetheless, the frequent predominance of bradykinesia and dystonia early in the course of the illness, more frequent occurrence of epilepsy and myoclonus, more widespread pathology, and larger genetic lesion means that the distinction is still relevant. In addition, the relative rarity of JHD means that the clinician managing the patient is often doing so for the first time. Management is, at best, symptomatic and supportive with few or no evidence-based guidelines. In this article, the authors will review what is known of the condition and present some suggestions based on their experience.

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Acknowledgements

The authors would like to thank their patients and the European Huntington’s Disease Network (EHDN) for establishing a working group on juvenile Huntington’s disease, which has brought them together.

Financial & competing interest disclosure

OWJ Quarrell is lead facilitator for the Juvenile Huntington’s Disease Working Group within the European Huntington’s Disease Network (EHDN) and has been in receipt of seed fund grants supporting work on juvenile Huntington’s disease. He has recently been appointed to the steering committee for the EHDN study called REGISTRY and is a member of the Scientific and Publication Review committee for the ENROLL-HD project. MA Nance served on an advisory board panel for Lundbeck Pharmaceuticals and Cure Huntington’s Disease Initiative (CHDI); received honoraria from the Huntington Disease Society of America and WebMD; and receives or has received grant support from the Huntington Disease Society of America, National Parkinson Foundation, IMPax Pharmaceuticals, TEVA Pharmaceuticals, Prana Biotechnology, Schering–Plough Research Institute, Phytopharm, Biotie Therapies Inc., Neurosearch, Medivation/Pfizer, NIH/National Institute of Neurological Disorders and Stroke (NINDS), and National Center for Complimentary and Alternative Medicine (NCCAM). P Nopoulos receives research funding from CHDI and the NIH. JS Paulsen receives funding from the NIH (NS0040068), the Huntington Disease Society of America and CHDI. JA Smith has received funding from the EHDN. F Squitieri has recieved support from the patients’ families organization Associazione Italiana Corea di Huntington (AICH), Neuromed, NeuroSearch and Telethon (grant number: GGP12218). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

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Managing juvenile Huntington’s disease

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