Skip to main content
SpringerLink
Log in

Juvenile Huntington’s Disease: Diagnostic and Treatment Considerations for the Psychiatrist

  • Complex Medical-Psychiatric Issues (MB Riba, Section Editor)
  • Published:
Current Psychiatry Reports Aims and scope Submit manuscript

Abstract

Juvenile Huntington’s disease (JHD) is a neurodegenerative disease with onset prior to the age of 21. While it accounts for a relatively small proportion of Huntington’s disease (HD) diagnoses, its impact is significant on the quality of life for those affected. Clinicians may be unaware that HD can present in childhood and adolescence, delaying diagnosis. HD develops due to an expanded CAG repeat in the huntington gene. Rigidity, dystonia, and seizures are more common in JHD. Cognitive changes such as executive function impairments and decline in school performance are common. The burden of psychiatric symptoms is considerable and includes depression, anxiety, impulsivity, and aggression. While novel approaches to treatment interventions are investigated, current care is limited to targeting symptoms rather than disease modification. Prompt diagnosis and symptomatic treatment can maximize quality of life for these patients.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

Papers of particular interest, published recently, have been highlighted as: • Of importance

  1. The Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72(6):971–83.

    Article  Google Scholar 

  2. Douglas I, Evans S, Rawlins MD, Smeeth L, Tabrizi SJ, Wexler NS. Juvenile Huntington’s disease: a population-based study using the General Practice Research Database. BMJ Open. 2013;3, e002085.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Cloud LJ, Rosenblatt A, Margolis RL, Ross CA, Pillai JA, Corey-Bloom H, et al. Seizures in juvenile Huntington’s disease: frequency and characterization in a multicenter cohort. Mov Disord. 2012;27(14):1797–800.

    Article  PubMed  Google Scholar 

  4. Letort D, Gonzalez-Alegre P. Huntington's disease in children. Handb Clin Neurol. 2013;113:1913–7.

  5. Deng P, Torrest A, Pollock K, Dahlenburg H, Annett G, Nolta JA, et al. Clinical trial perspective for adult and juvenile Huntington’s disease using genetically-engineered mesenchymal stem cells. Neural REgen Res. 2016;11(5):702–5.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Quarrell O, O’Donovan KL, Bandmann O, Strong M. The prevalence of juvenile Huntington’s disease: a review of the literature and meta-analysis. PLos Curr. 2012;4:e4f8606b742ef3.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Faroud T, Gray J, Ivashina J, Conneally PM. Differences in duration of Huntington’s disease based on age at onset. J Neurol Neurosurg Psychiatry. 1999;66:52–6.

    Article  Google Scholar 

  8. Telenius H, Kremer HPH, Theilmann J, Andrew SE, Almqvist E, Anvret M, et al. Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Human Mol Gen. 1993;2(10):1535–40.

    Article  CAS  Google Scholar 

  9. Nicholas G, Devys D, Goldenberg A, Maltete D, Herve C, Hannequin D, Guyant-Marechal L. Juvenile Huntington disease in a 18-month-old boy revealed by global developmental dealy and reduced cerebellar volume. Am J Med Genet 2011;Part A 155:815-818.

  10. Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington’s disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psych. 2012;34:436. e9-436.e11.

    Article  Google Scholar 

  11. Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, Legout A, et al. Psychiatric and cognitive difficulties as indicators of juvenile Huntington disease onset in 29 pateints. Arch Neurol. 2007;64:813–9.

    Article  PubMed  Google Scholar 

  12. Kliegman RM, Behrman RE, Jenson HB, Stanton BF Ed. Nelson Textbook of pediatrics. 18th ed. Philadelphia: W.B. Saunders Co; 2007. p. 2488–2493.

  13. Lai SC, Jung SM, Grattan-Smith P, Sugo E, Lin YW, Chen RS, et al. Neuronal intranuclear inclusion disease: two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia. Mov Disord. 2010;25(9):1274–9.

    Article  PubMed  Google Scholar 

  14. Robertson L, Santini H, O’Donovan KL. Squitieri F, Barker RA, Rakowicz M, Landwehrmeyer GB, Quarrell O. Current pharmacological management in juvenile Huntington’s disease. PLoS Curr 2012 Feb 6 [revised 2012 Mar 26];4:RRN1304.

  15. Rasmussen A, Macias R, Ochoa A, Davila G, Alonso E. Huntington disease in children: genotype-phenotype correlation. Neuropediatrics. 2000;31:190–4.

    Article  CAS  PubMed  Google Scholar 

  16. Quarrell OW, Nance MA, Nopoulos P, Paulsen JS, Smith JA, Squitieri F. Managing juvenile Huntington’s disease. Neurodegner Dis Manag 2013 June 1;3(3):.doi10.2217/nmt.13.18.

  17. di Biase L, Munhoz RP. Deep brain stimulation for the treatment of hyperkinetic movement disorders. Exp Rev Neurotherapeutics. 2016;16(9):1067–78. doi:10.1080/14737175.2016.1196139. Epub 2016 Jun 10.

    Article  Google Scholar 

  18. Aylward EH. Change in MRI striatal volumes as a biomarker in preclinical Huntington’s disease. Brain Res Bull. 2007;72:152–8.

    Article  CAS  PubMed  Google Scholar 

  19. Fink KD, Deng P, Torrest A, Stewart H, Pollack K, Gruenloh W, et al. Developing stem cell therapies for juvenile and adult-onset Huntington’s disease. Regen Med. 2015;10(5):623–46. Review of research into the use of mesenchymal stem cells and BDNF in the treatment of Huntington’s disease.

    Article  CAS  PubMed  Google Scholar 

  20. Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol. 2006;21:223–9.

    PubMed  Google Scholar 

  21. Reilmann R, Leavitt BR, Ross CA. Diagnostic criteria for Huntington's disease based on natural history. Mov Disord. 2014;29(11):1335–41.

  22. Orth M, Handley OJ, Shwenke C, Dunnett SB, Craufurd D, Ho AK, Wild E, Tabrizi SJ, Landwehrmeyer GB. Observing Huntington’s disease: the European Huntington’s Disease Registry. PloS Curr 2010 September 28 [revised 2011 April 13]; Published online 2011 April 13. doi:10.1371/currents.RRN1184

  23. Huntington Study Group. Unified Huntington’s disease rating scale: reliability and consistency. Mov Disord. 1996;11(2):136–42.

    Article  Google Scholar 

  24. Mestre TA et al. Rating scales for behavioral symptoms in Huntington’s disease: critique and recommendations. Movement Disorders 2016 doi:10.1002/mds.26675. Highlighted the limitations of existing rating scales considering the complexity of behavioral symptoms in Huntington’s disease

  25. The Huntington Study Group. Effect of deutetrabenazine on chorea among patients with Huntington disease: a randomized clinical trial. JAMA. 2016;316(1):40–50. Trial of a novel therapy for treatment of chorea.

Download references

Acknowledgements

The editors would like to thank Dr. Harrison Levine for taking time to review this manuscript.

Author information

Authors and Affiliations

  1. Department of Psychiatry, University of Michigan, Rachel Upjohn Building, 4250 Plymouth Road, SPC 5766, Ann Arbor, MI, 48109-2700, USA

    Joanna Quigley

Authors
  1. Joanna Quigley
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Joanna Quigley.

Ethics declarations

Conflict of Interest

The author declares that she has no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Additional information

This article is part of the Topical Collection on Complex Medical-Psychiatric Issues

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Quigley, J. Juvenile Huntington’s Disease: Diagnostic and Treatment Considerations for the Psychiatrist. Curr Psychiatry Rep 19, 9 (2017). https://doi.org/10.1007/s11920-017-0759-9

Download citation

  • Published:

  • DOI: https://doi.org/10.1007/s11920-017-0759-9

Keywords

Search

Navigation