Huntington's disease; Huntington's chorea (progressive hereditary chorea)

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Etiology

Epidemiology

  • overall prevalence of 5-10 per 100,000
  • onset of symptoms in mid life (generally 4th-5th decade)

Pathology

Genetics

Clinical manifestations

Laboratory

Radiology

Differential diagnosis

Management

More general terms

References

  1. Jump up to: 1.0 1.1 DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 875
  2. Jump up to: 2.0 2.1 2.2 Medical Knowledge Self Assessment Program (MKSAP) 11, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2015, 2018, 2021
  3. Jump up to: 3.0 3.1 Subramaniam S et al Rhes, a Striatal Specific Protein, Mediates Mutant-Huntingtin Cytotoxicity Science. 2009 Jun 5;324(5932):1327-1330. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19498170 DOI:http://dx.doi.org/ 10.1126/science.1172871
  4. Jump up to: 4.0 4.1 ARUP Consult: Huntington Disease - HD The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/huntington-disease
    ARUP Consult: Huntington Disease https://arupconsult.com/ati/huntington-disease
  5. Jump up to: 5.0 5.1 5.2 5.3 Armstrong MJ, Miyasaki JM. Evidence-based guideline: pharmacologic treatment of chorea in Huntington disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology 2012 Aug 7;79(6):597-603. [31 references] PMID: https://www.ncbi.nlm.nih.gov/pubmed/22815556 Free PMC Article
  6. Jump up to: 6.0 6.1 Bordelon YM. Clinical neurogenetics: huntington disease. Neurol Clin. 2013 Nov;31(4):1085-94. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24176425
  7. Jump up to: 7.0 7.1 Kay C, Collins JA, Miedzybrodzka Z et al. Huntington disease reduced penetrance alleles occur at high frequency in the general population. Neurology 2016 Jun 22; PMID: https://www.ncbi.nlm.nih.gov/pubmed/27335115
    Delatycki MB, Bandmann O. Huntington disease: More common than you think? Neurology 2016 Jun 22 PMID: https://www.ncbi.nlm.nih.gov/pubmed/27335111
  8. Jump up to: 8.0 8.1 8.2 8.3 8.4 8.5 Rub U et al Huntington's disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain. Brain Pathol. 2016 Nov;26(6):726-740 PMID: https://www.ncbi.nlm.nih.gov/pubmed/27529157
  9. Rub U et al Huntington's disease (HD): degeneration of select nuclei, widespread occurrence of neuronal nuclear and axonal inclusions in the brainstem. Brain Pathol. 2014 Apr;24(3):247-60. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24779419
  10. Jump up to: 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 van der Burg JM, Bjorkqvist M, Brundin P Beyond the brain: widespread pathology in Huntington's disease. Lancet Neurol. 2009 Aug;8(8):765-74. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19608102
  11. Dayalu P, Albin RL Huntington disease: pathogenesis and treatment. Neurol Clin. 2015 Feb;33(1):101-14. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/25432725
  12. Jump up to: 12.0 12.1 12.2 George J Widespread Selenium Deficiency Seen in Huntington's Disease Brains
    Researchers caution about self-medicating MedPage Today October 24, 2023 https://www.medpagetoday.com/neurology/generalneurology/106970
    Scholefield M, Patassini S, Xu J, Cooper GJS. Widespread selenium deficiency in the brain of cases with Huntington's disease presents a new potential therapeutic target. eBioMedicine. 2023 Oct 6:97:104824 PMID: https://www.ncbi.nlm.nih.gov/pubmed/37806287 https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(23)00390-0/fulltext
  13. Jump up to: 13.0 13.1 Schultz JL, Ogilvie AC, Harshman LA, Nopoulos PC. beta-Blocker Use and Delayed Onset and Progression of Huntington Disease. JAMA Neurol. 2024 Dec 2. PMID: https://www.ncbi.nlm.nih.gov/pubmed/39621338 https://jamanetwork.com/journals/jamaneurology/fullarticle/2827461
  14. NINDS Huntington's Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Huntingtons-Disease-Information-Page

Patient information

Huntington's disease patient information

Database