Today, We Know More About Huntington's Disease Than Ever Before

Huntington's disease (HD) is a genetic, neurodegenerative disease characterized by cognitive and motor decline and behavioral symptoms. HD impacts families across generations, with each child of a parent with HD having a 50/50 chance of developing the disease.1,2

The more we learn about the mutant huntingtin (mHTT) protein responsible for causing HD, the closer we get to unlocking the mysteries of this condition.

>30,000 patients with HD symptoms and many more at risk of inheriting HD
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Watch to learn more about HD

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Huntington's Disease is Characterized by a Triad of Symptoms

The behavioral, cognitive, and motor symptoms affected by HD

Since patients experience these symptoms in their own unique way, HD can often be challenging to diagnose.

*This is not a comprehensive list of HD symptoms.

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Huntington’s Disease Progression Can Be Described in 3 Phases

Onset of HD typically occurs when an individual is between 30 and 50 years of age. HD can progress over a period of 15 to 20 years, as cognitive and motor symptoms increase and functional capacity declines. HD phasing terminology does continue to evolve; however, the disease generally progresses through these phases.2,9,10

The presymptomatic, prodromal, and manifest stages of HD
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The significance of expanded CAG trinucleotide repeats

Researchers identified that the number of cytosine-adenine-guanine (CAG) trinucleotide repeat expansions in the huntingtin gene (HTT ) has been shown to correlate with the age of disease onset.1,2

 

The number of CAG trinucleotide repeats is key to pathogenesis.

Normal: ≤26 CAG repeats

  • Risk of HD in patient: No
  • Risk of HD in next generation: No

High Normal: 27 – 35 CAG repeats

  • Risk of HD in patient: No
  • Risk of HD in next generation: Possible

Reduced Penetrance: 36 – 39 expanded CAG repeats

  • Risk of HD in patient: Possible
  • Risk of HD in next generation: Yes

Full Penetrance: ≥40 expanded CAG repeats

  • Risk of HD in patient: Definite HD
  • Risk of HD in next generation: Yes

A blood test can be performed to determine the CAG repeat length.1

 

    • 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;72:971-983.

      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;72:971-983.

    • Ghosh R, Tabrizi SJ. Huntington disease. In: Geschwind DH, Paulson HL, Klein C, eds. Handbook of Clinical Neurology, Vol 147. Elsevier BV; 2018;255-278. https://doi.org/10.1016/B978-0-444-63233-3.00017-8

      Ghosh R, Tabrizi SJ. Huntington disease. In: Geschwind DH, Paulson HL, Klein C, eds. Handbook of Clinical Neurology, Vol 147. Elsevier BV; 2018;255-278. https://doi.org/10.1016/B978-0-444-63233-3.00017-8

    • Huntington G. On chorea. J Neuropsychiatry Clin Neurosci. 2003;15(1):109-113.

      Huntington G. On chorea. J Neuropsychiatry Clin Neurosci. 2003;15(1):109-113.

    • Moscovich M, Munhoz RP, Becker N, et al. Américo Negrette and Huntington’s disease. Arq Neuropsiquiatr. 2011;69(4):711-713.

      Moscovich M, Munhoz RP, Becker N, et al. Américo Negrette and Huntington’s disease. Arq Neuropsiquiatr. 2011;69(4):711-713.

    • Rodrigues FB, Byrne LM, Wild EJ. Biofluid biomarkers in Huntington’s Disease. Methods Mol Biol. 2018;1780:329-396.

      Rodrigues FB, Byrne LM, Wild EJ. Biofluid biomarkers in Huntington’s Disease. Methods Mol Biol. 2018;1780:329-396.

    • Yohrling G, Raimundo K, Crowell V, Lovecky D, Vetter L, Seeberger L. Prevalence of Huntington’s Disease in the US [abstract taken from HSG 2019]. Neurotherapeuticshttps://doi.org/10.1007/s13311-019-00788-3. Published October 8, 2019.

      Yohrling G, Raimundo K, Crowell V, Lovecky D, Vetter L, Seeberger L. Prevalence of Huntington’s Disease in the US [abstract taken from HSG 2019]. Neurotherapeuticshttps://doi.org/10.1007/s13311-019-00788-3. Published October 8, 2019.

    • Bates GP, Dorsey R, Gusella JF, et al. Huntington disease. Nat Rev Dis Primers. 2015;1:15005.

      Bates GP, Dorsey R, Gusella JF, et al. Huntington disease. Nat Rev Dis Primers. 2015;1:15005.

    • Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018;7(3):355-366.

      Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018;7(3):355-366.

    • Roos RAC. Huntington disease: a clinical review. Orphanet J Rare Dis. 2010;5:40. doi:10.1186/1750-1172-5-40.

      Roos RAC. Huntington disease: a clinical review. Orphanet J Rare Dis. 2010;5:40. doi:10.1186/1750-1172-5-40.

    • Frank S. Treatment of Huntington’s disease. Neurotherapeutics. 2014;11(1):153-160.

      Frank S. Treatment of Huntington’s disease. Neurotherapeutics. 2014;11(1):153-160.

    • Nance M, Paulsen JS, Rosenblatt A, Wheelock V. A Physician’s Guide to the Management of Huntington’s Disease. 3rd ed. New York, NY: Huntington's Disease Society of America; 2011.

      Nance M, Paulsen JS, Rosenblatt A, Wheelock V. A Physician’s Guide to the Management of Huntington’s Disease. 3rd ed. New York, NY: Huntington's Disease Society of America; 2011.

    • Huntington’s Disease Society of America. HDSA Family Guide Series: Physical and Occupational Therapy—Huntington’s Disease. http://hdsa.org/wp-content/uploads/2015/03/PhysicalOccupationalTherapy_FamilyGuide.pdf. Accessed May 17, 2019.

      Huntington’s Disease Society of America. HDSA Family Guide Series: Physical and Occupational Therapy—Huntington’s Disease. http://hdsa.org/wp-content/uploads/2015/03/PhysicalOccupationalTherapy_FamilyGuide.pdf. Accessed May 17, 2019.

    • Wild EJ, Boggio R, Langbehn D, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest. 2015;125(5):1979-1986.

      Wild EJ, Boggio R, Langbehn D, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest. 2015;125(5):1979-1986.

    • Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983;306:234-238.

      Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983;306:234-238.

    • Kendrick LM, Hudgell D, Hellman A, Weaver MS. Attending to total pain in juvenile Huntington disease: a case report informed by narrative review of the literature. J Palliat Care. 2019. doi:10.1177/0825859719835560.

      Kendrick LM, Hudgell D, Hellman A, Weaver MS. Attending to total pain in juvenile Huntington disease: a case report informed by narrative review of the literature. J Palliat Care. 2019. doi:10.1177/0825859719835560.

    • Piira A, van Walsem MR, Mikalsen G, Nilsen KH, Knutsen S, Frich JC. Effects of a one year intensive multidisciplinary rehabilitation program for patients with Huntington’s disease: a prospective intervention study. http://currents.plos.org/hd/index.html%3Fp=7893.html. Accessed January 16, 2020.

      Piira A, van Walsem MR, Mikalsen G, Nilsen KH, Knutsen S, Frich JC. Effects of a one year intensive multidisciplinary rehabilitation program for patients with Huntington’s disease: a prospective intervention study. http://currents.plos.org/hd/index.html%3Fp=7893.html. Accessed January 16, 2020.