Skip to main content

Huntington’s Disease

  • Chapter
  • First Online:

Abstract

Huntington’s disease (HD) is an autosomal dominant neurodegenerative brain disorder. The mutation was identified in 1993 as an expanded CAG repeat that codes for an abnormally high number of glutamines in the huntingtin protein. At present, there is no known treatment to slow the pace of neurodegeneration, which generally leads to death over a 20-year period after clinical diagnosis. The clinical manifestations of the disease vary widely but they generally include dysfunction in cognition, mood, voluntary motor control, and most patients have the signature finding of chorea.

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

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Further Reading

  • Bates, G, Harper, P, Jones L (2002). Huntington’s Disease. 3rd Edition. Oxford University Press, Oxford.

    Google Scholar 

  • David, A.S., Fleminger, S., Kopelman, M.D., Lovestone, S., Mellers, J.D.C. (2009). Lishman’s Organic Psychiatry: A textbook of Neuropsychiatry. Wiley-Blackwell

    Google Scholar 

  • Hersch S, Jones, R, KoroshetzW, Quaid K, (1994) The neurogenetics genie: testing for the Huntingtons disease mutation. Neurology 44: 1369–1373.

    PubMed  CAS  Google Scholar 

  • Huntington Study Group (1996). Unified Huntington’s disease rating scale:reliability and consistency. Movement Disorders. 11: 136-142

    Google Scholar 

  • Johnson CD, Davidson BL. (2010) Huntington’s disease: progress toward effective disease-modifying treatments and a cure. Human Molecular Genetics. 19: Rev issue 1. R98-R102.

    Article  PubMed  CAS  Google Scholar 

  • Kayson, E., Darnell, M., Weber, J., Biglan, K., & Shoulsan, I et al. (2004). Depression and suicidality at baseline in the prospective Huntington’s At Risk Observational Study (PHAROS). Movement Disorders, 19, 1128.

    Google Scholar 

  • Klöppel, S., Stonnington, C.M. et al., (2010). Irritability in pre-clinical Huntington’s disease. Neuropsychologia 48, 549–557.

    Article  PubMed  Google Scholar 

  • Krainc D. (2010) Clearance of mutant proteins as a therapeutic target for neurodegenerative diseases. Arch of Neurol. 67: 388–392.

    Article  Google Scholar 

  • Kremer, B. (2002). Clinical neurology of Huntington’s disease. In G. Bates, P. Harper, L.Jones (Eds). Huntington’s disease (3rd ed. pp.28–61). OUP.

    Google Scholar 

  • Lundin A, Dietrichs E, Haghighi S. et. al. (2010) Efficacy and safety of the dopaminergic stabilizer pridopidine (ACR16) in patients with Huntington’s disease. Clin Neuropharmacol. 33:260–264.

    Article  PubMed  CAS  Google Scholar 

  • Maestre T, Ferreira J, Coelho MM, Rosa M, Sampaio C. (2009) Therapeutic interventions for symptomatic treatment in Huntington disease. Cochrane Database Syst Rev. CD006456.

    Google Scholar 

  • Marder K, Zhao H, Eberly S, Tanner CM, Oakes D, Shoulson I, Huntington’s Study Group. (2009) Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants. Neurology 73: 385–92.

    Article  Google Scholar 

  • Mellers, J.D.C. & Pender, N. (2001).Neuropsychiatry of Huntington‘s disease. Advances in Clinical Neuroscience and Rehabilitation, 1, 5, 15–16.

    Google Scholar 

  • Paulsen J. (2005) Cognitive changes in Huntington’s disease. Advances in Neurology 96:209–225.

    PubMed  Google Scholar 

  • Paulsen, S., Langbehn, D.R., Stout, J.C. et al. (2008). Detection of Huntington’s disease decades before diagnosis: the Predict-HD study. Journal of Neurology, Neurosurgery and Psychiatry, 79:874–880.

    Article  CAS  Google Scholar 

  • Rosas HD, Feigin AS, Hersch SM. (2004) Using advances in neuroimaging to detect, understand, and monitor disease progression in Huntington’s disease. NeruoRx. 1:263–273.

    Article  CAS  Google Scholar 

  • Snowden, J., Crauford, D., Griffiths, H.L. & Neary, D. (2001). Longitudinal evaluation of cognitive disorder in Huntington’s disease. Journal of the International Neuropsychological Society, 7, 33–44.

    Article  PubMed  CAS  Google Scholar 

  • Sutherland, G.R. & Richards, R.I. (1993). Dynamic mutations on the move. Journal of Medical Genetics, 30, 978–981.

    Article  PubMed  CAS  Google Scholar 

  • Testa, J.A. Brumback, R.A. et al.(1988). Neuropathology and memory dysfunction in neurodegeneraive diseases. In A. Troster (Ed.), Memory in neurodegenerative disease: Biological, Cognitive and Clinical Perspectives. CUP

    Google Scholar 

  • Quinn N, Brown R, Craufurd D, Goldman S, Hodges J, Kieburtz K, Lindvall O, MacMIllan J, Roos R (1996). Core Assessment program for intracerebral transplantation in Huntington’s disease. Movement Disorders 1996 11: 143-150.

    Google Scholar 

  • Zakzanis, K.K (1998). The subcortical dementia of Huntington’s disease. Journal of Clinical and Experimental Neuropsychology, 20, 4, 565–578.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Walter J. Koroshetz .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2011 Springer-Verlag London Limited

About this chapter

Cite this chapter

Pender, N.P., Koroshetz, W.J. (2011). Huntington’s Disease. In: Hardiman, O., Doherty, C. (eds) Neurodegenerative Disorders. Springer, London. https://doi.org/10.1007/978-1-84996-011-3_8

Download citation

  • DOI: https://doi.org/10.1007/978-1-84996-011-3_8

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84996-010-6

  • Online ISBN: 978-1-84996-011-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics