NDDRF knowledgebase

Huntington's disease

Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease[1] that is mostly inherited.[7] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities.[3][4] A general lack of coordination and an unsteady gait often follow.[7] It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea.[5][6]

As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent.[4] Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk.[4][7] Mental abilities generally decline into dementia, depression, apathy, and impulsivity at times.[3][8][9] The specific symptoms vary somewhat between people.[4]

[1]"Huntington's disease - Treatment and support". National Health Service UK. 23 October 2017. Archived from the original on 6 May 2023. Retrieved 6 May 2023.
[2]Illarioshkin SN, Klyushnikov SA, Vigont VA, Seliverstov YA, Kaznacheyeva EV (September 2018). "Molecular Pathogenesis in Huntington's Disease". Biochemistry. Biokhimiia. 83 (9): 1030–1039. doi:10.1134/S0006297918090043. PMID 30472941. S2CID 26471825. Archived from the original on 13 November 2020. Retrieved 8 November 2020 – via protein.bio.msu.ru.
[3]Sudhakar V, Richardson RM (January 2019). "Gene Therapy for Neurodegenerative Diseases". Neurotherapeutics. 16 (1): 166–175. doi:10.1007/s13311-018-00694-0. PMC 6361055. PMID 30542906
[4]Dayalu P, Albin RL (February 2015). "Huntington disease: pathogenesis and treatment". Neurologic Clinics. 33 (1): 101–114. doi:10.1016/j.ncl.2014.09.003. PMID 25432725
[5]Kumar, Abbas A, Aster J (2018). Robbins basic pathology (Tenth ed.). Philadelphia, Pennsylvania: Elsevier. p. 879. ISBN 978-0-323-35317-5.
[6]Purves D (2012). Neuroscience (5th ed.). Sunderland, Mass.: Sinauer Associates. p. 415. ISBN 978-0-87893-695-3.
[7]Caron NS, Wright GE, Hayden MR (2020). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Huntington Disease". GeneReviews. PMID 20301482
[8]Saudou F, Humbert S (March 2016). "The Biology of Huntingtin". Neuron. 89 (5): 910–926. doi:10.1016/j.neuron.2016.02.003. PMID 26938440. S2CID 8272667
[9]Frank S (January 2014). "Treatment of Huntington's disease". Neurotherapeutics. 11 (1): 153–160. doi:10.1007/s13311-013-0244-z. PMC 3899480. PMID 24366610