Huntington Disease

Huntington Disease

huntington

Definition

  • Huntington disease is an inherited disorder which results in death of brain cells. Earliest symptoms include problems in mood and mental abilities and as the disease advances jerky body moments starts appearing. Key symptoms include irritability, apathy, anxiety, and depressed mood. Mostly disease may occur between 30 to 50 years but can also develop early at 20 years of age.

Epidemiology and burden of Huntington Disease

  • Incidence is low with 0.38 cases per 100,000 per year (95%CI: 0.16, 0.94). Lower incidence was reported in the Asian studies compared to Europe, North America, and Australia. (Mov Disord.2012 Aug;27(9):1083-91)
  • HD rate in UK population is comparatively high as 5.4 in 1990 (per 100000 populations) which rose to 12.3 in 2010. (J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1156–1160)
  • It affects an estimated 3 to 7 per 100,000 people in Europe and it is less common in Japanese, Chinese, Africans (https://ghr.nlm.nih.gov)

Treatment & Prevention of Huntington Disease

  • The supportive role of antioxidants in reducing the symptoms of HD in adults has a great promise and advocates a new line of research in future. (Oxid Med Cell Longev.2017;2017:3279061)
  • Till date there is no high quality evidence for treatment of HD and also there has been minimal success in identifying the disease modifying therapy. (Curr Neurol Neurosci Rep.2017 Apr;17(4):33)
  • Amantadine is useful in the treatment of Huntington’s disease. (2004 Aug 10;63(3):597-8)
  • Huntington disease is currently incurable and existing medication only help to treat the symptoms and not to cure. (http://www.medicalnewstoday.com)
  • Tetrabenazine (TBZ) has been proved an effective and relatively well tolerated treatment in hyperkinetic disorders, with excellent results in HD. (Ther Adv Neurol Disord.2017 Feb;10(2):81-90)
  • LBH589 could be a promising candidate for the treatment of HD patients. (J Huntingtons Dis.2016 Dec 15;5(4):347-355)
  • Pra-C may have therapeutic potential with respect to the movement, psychiatric, and cognitive symptoms of HD. (Biomed Pharmacother.2017 Feb;86:81-87)
  • Vitamin D may be an effective supplementary treatment to beneficially influence clinical features of Huntington’s disease. (Acta Neurobiol Exp (Wars).2016;76(3):176-81)

Complication of Huntington Disease

  • Having no sibling in patients with HD might be a risk factor to cause suicide. (Am J Med Genet.1993 Dec 15;48(4):231-3)
  • Early stages of HD are associated with disturbances of motion perception as well as the disruptions of visual motor and ocular motor performance. (Mov Disord.2003 Sep;18(9):1027-34)
  • Episodic memory impairment occurs in HD patients and should be considered while management. (2006;44(10):1984-94)
  • Neuroendocrine system majorly thyrotropic and gonadotropic axes are altered in HD patients according to the severity of the disease. (PLoS One.2009;4(3):e4962)    

Risk factors for Huntington Disease

  • In women lifetime alcohol abuse is found to be associated with early onset of HD, however no such correlation was found in men. (J Neurol.2012 Sep;259(9):1824-31)
  • Mutations in HTT genes that involve a DNA fragment known as a CAG trinucleotide repeat cause Huntington disease. Increase in size of CAG segment lead to the production of abnormal proteins which causes the disease. (https://ghr.nlm.nih.gov)
  • The disease is caused by a genetic defects on chromosome 4. The defects lead to a repetition of CAG part 36 to 120 times, however it generally repeats from 10 to 28 times. (https://medlineplus.gov/ency/article/000770.htm)

Systematic reviews

  • Quality of Life of Cypriot Patients Suffering with Huntington’s disease...more
  • Is There an Association of Physical Activity with Brain Volume, Behavior, and Day-to-day Functioning? A Cross Sectional Design in Prodromal and Early Huntington Disease…more
  • Systematic review: Efficacy and safety of medical marijuana in selected neurologic disorders...more
  •  The global prevalence of Huntington’s disease: a systematic review and discussion…more

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