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. 2013 Jun 1;3(3):10.2217/nmt.13.18.
doi: 10.2217/nmt.13.18.

Managing juvenile Huntington's disease

Affiliations

Managing juvenile Huntington's disease

Oliver W J Quarrell et al. Neurodegener Dis Manag. .

Abstract

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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References

    1. Huntington G. On chorea. Medical and Surgical Reporter. 1872;26:317–321.
    1. Hoffmann J. On chronic progressive chorea (Huntington’s chorea, hereditary chorea) Virchows Arch A Pathol Anat. 1888;111:513–548.
    1. Bruyn GW. Huntington’s chorea historical, clinical and laboratory synopsis. In: Vinken PJ, Bruyn GW, editors. Handbook of Clinical Neurology. Vol. 16. Elsevier; Amsterdam, The Netherlands: 1968. pp. 298–387. Summarizes the cases of juvenile Huntington’s disease (JHD) reported in the literature up to 1968.
    1. Quarrell O, O’Donovan KL, Bandmann O, Strong M. The prevalence of Huntington’s disease: a review of the literature and meta-analysis. PLoS Curr. 2012;4:e4f8606b742ef3. - PMC - PubMed
    1. Rawlins M. Huntington’s disease out of the closet. Lancet. 2010;376(9750):1372–1373. - PubMed

Websites

    1. European Huntington’s Disease Network. [Accessed 29 October 2012];REGISTRY. www.euro-hd.net/html/network.
    1. European Huntington’s Disease Network. [Accessed 29 October 2012];Huntington’s Disease Working Group. www.euro-hd.net/html/network/groups/jhd.
    1. ENROLL-HD. [Accessed 14 October 2012];Enroll-HD – Working Groups – Protocol Development Committee. www.enroll-hd.org/html/wg/protocol/docs.
    1. ClinicalTrials.gov. [Accessed 19 February 2013];Creatine Safety, Tolerability, and Efficacy in Huntington’s Disease (CREST-E) www.clinicaltrials.gov/ct2/show/NCT00712426?term=crest+E&rank=1.