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Huntington's disease

From Wikipedia
Huntington's disease
designated intractable/rare disease, rare disease, class of disease, Signs den symptoms
Dem name afterGeorge Huntington Edit
Has causetrinucleotide repeat expansion Edit
Discoverer or inventorGeorge Huntington Edit
Time of discovery anaa invention13 April 1872 Edit
Health specialtyneurology Edit
Symptoms and signspersonality change, choreatic disease, weight loss, dementia Edit
Medical examinationgenetic testing Edit
Mode of inheritanceautosomal dominant Edit
Genetic associationHTT Edit
Described at URLhttps://lirh.it/it/come-si-manifesta-la-malattia-di-huntington Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/175 Edit
ICD-9-CM333.4 Edit
ICPC 2 IDP70 Edit
NCI Thesaurus IDC82342 Edit

Huntington's disease (HD), dem sanso know am as Huntington's chorea, be an incurable neurodegenerative disease[1] wey mostly dem inherit.[2] E typically dey present as a triad of progressive psychiatric, cognitive, den motor symptoms.[3] De earliest symptoms be often subtle problems plus mood anaa mental/psychiatric abilities, wich dey precede de motor symptoms give chaw people.[4][5] De definitive physical symptoms, wey dey include a general lack of coordination den an unsteady gait, eventually dey follow.[6] Over time, de basal ganglia region of de brain gradually cam be damaged.[7] De disease be primarily characterized by a distinctive hyperkinetic movement disorder dem know am as chorea.[8][9] Chorea classically dey present as uncoordinated, involuntary, "dance-like" body movements wey cam be more apparent as de disease advances.[5] Physical abilities gradually worsen til coordinated movement cam turn difficult wey de person be unable to talk.[5][6] Mental abilities generally dey decline into dementia, depression, apathy, den impulsivity at times.[4][10][11] De specific symptoms dey vary somewat between people.[5] Symptoms usually dey begin between 30 den 50 years of age, wey fi start for any age buh be usually seen around de age of 40.[10][4][11][12] De disease fi develop earlier for each successive generation insyd.[5] About eight percent of cases start before de age of 20 years, wey ebe known as juvenile HD, wich typically dey present plus de slow movement symptoms of Parkinson's disease rather dan those of chorea.[11]

References

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  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. ↑ "Huntington's disease - Symptoms and causes". Mayo Clinic (in English). Retrieved 2025-04-25.
  4. ↑ 4.0 4.1 4.2 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.
  5. ↑ 5.0 5.1 5.2 5.3 5.4 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.
  6. ↑ 6.0 6.1 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.
  7. ↑ Reiner, Anton; Dragatsis, Ioannis; Dietrich, Paula (2011). "Genetics and neuropathology of Huntington's disease". International Review of Neurobiology. 98: 325–372. doi:10.1016/B978-0-12-381328-2.00014-6. ISSN 2162-5514. PMC 4458347. PMID 21907094.
  8. ↑ Kumar, Abbas A, Aster J (2018). Robbins basic pathology (Tenth ed.). Philadelphia, Pennsylvania: Elsevier. p. 879. ISBN 978-0-323-35317-5.
  9. ↑ Purves D (2012). Neuroscience (5th ed.). Sunderland, Mass.: Sinauer Associates. p. 415. ISBN 978-0-87893-695-3.
  10. ↑ 10.0 10.1 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.
  11. ↑ 11.0 11.1 11.2 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.
  12. ↑ "Huntington's Disease Information Page". National Institute of Neurological Disorders and Stroke. Archived from the original on 13 December 2020. Retrieved 14 December 2020.
[edit | edit source]
  • HOPES project Archived 27 August 2020 at the Wayback Machine – Stanford University's HD information project
  • HDBuzz – HD research news written by scientists in plain language
  • HD Drug Works – news about current treatments and planned trials
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