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Huntington disease(HD)

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
Synonyms: HD; HUNTINGTON CHOREA; Huntington's chorea; Huntington's disease
SNOMED CT: HC - Huntington chorea (58756001); HD - Huntington chorea (58756001); Huntington chorea (58756001); Huntington disease (58756001); Huntington's disease (58756001); Huntington's chorea (58756001); Chronic progressive chorea (58756001); Chronic progressive hereditary chorea (58756001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): HTT (4p16.3)
 
Monarch Initiative: MONDO:0007739
OMIM®: 143100
Orphanet: ORPHA399

Disease characteristics

Excerpted from the GeneReview: Huntington Disease
Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years, and the median survival time is 15 to 18 years after onset. [from GeneReviews]
Authors:
Nicholas S Caron  |  Galen EB Wright  |  Michael R Hayden   view full author information

Additional descriptions

From OMIM
Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.  http://www.omim.org/entry/143100
From MedlinePlus Genetics
Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).

Adult-onset Huntington's disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington's disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington's disease usually live about 15 to 20 years after signs and symptoms begin.

A less common form of Huntington's disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington's disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.  https://medlineplus.gov/genetics/condition/huntingtons-disease

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Huntington disease in Orphanet.

Professional guidelines

PubMed

Baizabal-Carvallo JF, Cardoso F
J Neural Transm (Vienna) 2020 Oct;127(10):1323-1342. Epub 2020 Aug 9 doi: 10.1007/s00702-020-02238-3. PMID: 32776155
Yavarpour-Bali H, Ghasemi-Kasman M, Pirzadeh M
Int J Nanomedicine 2019;14:4449-4460. Epub 2019 Jun 17 doi: 10.2147/IJN.S208332. PMID: 31417253Free PMC Article
Quaid KA
Handb Clin Neurol 2017;144:113-126. doi: 10.1016/B978-0-12-801893-4.00010-9. PMID: 28947110

Recent clinical studies

Etiology

Rook ME, Southwell AL
BioDrugs 2022 Mar;36(2):105-119. Epub 2022 Mar 7 doi: 10.1007/s40259-022-00519-9. PMID: 35254632Free PMC Article
Vuong K, Canning CG, Menant JC, Loy CT
Handb Clin Neurol 2018;159:251-260. doi: 10.1016/B978-0-444-63916-5.00016-1. PMID: 30482318
Stricker-Shaver J, Novati A, Yu-Taeger L, Nguyen HP
Adv Exp Med Biol 2018;1049:29-57. doi: 10.1007/978-3-319-71779-1_2. PMID: 29427097
Quaid KA
Handb Clin Neurol 2017;144:113-126. doi: 10.1016/B978-0-12-801893-4.00010-9. PMID: 28947110
Walker FO
Semin Neurol 2007 Apr;27(2):143-50. doi: 10.1055/s-2007-971176. PMID: 17390259

Diagnosis

Cincotta MC, Walker RH
Semin Neurol 2023 Feb;43(1):65-80. Epub 2023 Mar 7 doi: 10.1055/s-0043-1763506. PMID: 36882120
Gusella JF, Lee JM, MacDonald ME
Hum Mol Genet 2021 Oct 1;30(R2):R254-R263. doi: 10.1093/hmg/ddab170. PMID: 34169318Free PMC Article
Wyant KJ, Ridder AJ, Dayalu P
Curr Neurol Neurosci Rep 2017 Apr;17(4):33. doi: 10.1007/s11910-017-0739-9. PMID: 28324302
Ross CA, Aylward EH, Wild EJ, Langbehn DR, Long JD, Warner JH, Scahill RI, Leavitt BR, Stout JC, Paulsen JS, Reilmann R, Unschuld PG, Wexler A, Margolis RL, Tabrizi SJ
Nat Rev Neurol 2014 Apr;10(4):204-16. Epub 2014 Mar 11 doi: 10.1038/nrneurol.2014.24. PMID: 24614516
Walker FO
Lancet 2007 Jan 20;369(9557):218-28. doi: 10.1016/S0140-6736(07)60111-1. PMID: 17240289

Therapy

Stoker TB, Mason SL, Greenland JC, Holden ST, Santini H, Barker RA
Pract Neurol 2022 Feb;22(1):32-41. Epub 2021 Aug 19 doi: 10.1136/practneurol-2021-003074. PMID: 34413240
Kim A, Lalonde K, Truesdell A, Gomes Welter P, Brocardo PS, Rosenstock TR, Gil-Mohapel J
Int J Mol Sci 2021 Aug 4;22(16) doi: 10.3390/ijms22168363. PMID: 34445070Free PMC Article
Tabrizi SJ, Flower MD, Ross CA, Wild EJ
Nat Rev Neurol 2020 Oct;16(10):529-546. Epub 2020 Aug 14 doi: 10.1038/s41582-020-0389-4. PMID: 32796930
Pizzorni N, Pirola F, Ciammola A, Schindler A
Neurol Sci 2020 Jun;41(6):1405-1417. Epub 2020 Jan 27 doi: 10.1007/s10072-020-04265-0. PMID: 31989345
Yavarpour-Bali H, Ghasemi-Kasman M, Pirzadeh M
Int J Nanomedicine 2019;14:4449-4460. Epub 2019 Jun 17 doi: 10.2147/IJN.S208332. PMID: 31417253Free PMC Article

Prognosis

Medina A, Mahjoub Y, Shaver L, Pringsheim T
Mov Disord 2022 Dec;37(12):2327-2335. Epub 2022 Sep 26 doi: 10.1002/mds.29228. PMID: 36161673Free PMC Article
Gusella JF, Lee JM, MacDonald ME
Hum Mol Genet 2021 Oct 1;30(R2):R254-R263. doi: 10.1093/hmg/ddab170. PMID: 34169318Free PMC Article
Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ, Tabrizi SJ
Nat Rev Dis Primers 2015 Apr 23;1:15005. doi: 10.1038/nrdp.2015.5. PMID: 27188817
Ross CA, Aylward EH, Wild EJ, Langbehn DR, Long JD, Warner JH, Scahill RI, Leavitt BR, Stout JC, Paulsen JS, Reilmann R, Unschuld PG, Wexler A, Margolis RL, Tabrizi SJ
Nat Rev Neurol 2014 Apr;10(4):204-16. Epub 2014 Mar 11 doi: 10.1038/nrneurol.2014.24. PMID: 24614516
Mov Disord 1996 Mar;11(2):136-42. doi: 10.1002/mds.870110204. PMID: 8684382

Clinical prediction guides

Soliveri P, Paridi D, Del Sorbo F, Tramacere I, Girotti F
Neurol Sci 2022 Jun;43(6):3695-3701. Epub 2022 Jan 24 doi: 10.1007/s10072-021-05787-x. PMID: 35067828
Vuong K, Canning CG, Menant JC, Loy CT
Handb Clin Neurol 2018;159:251-260. doi: 10.1016/B978-0-444-63916-5.00016-1. PMID: 30482318
Ciarmiello A, Giovacchini G, Giovannini E, Lazzeri P, Borsò E, Mannironi A, Mansi L
J Cell Physiol 2017 Aug;232(8):1988-1993. Epub 2017 Mar 24 doi: 10.1002/jcp.25666. PMID: 27791273
Huntington Study Group, Frank S, Testa CM, Stamler D, Kayson E, Davis C, Edmondson MC, Kinel S, Leavitt B, Oakes D, O'Neill C, Vaughan C, Goldstein J, Herzog M, Snively V, Whaley J, Wong C, Suter G, Jankovic J, Jimenez-Shahed J, Hunter C, Claassen DO, Roman OC, Sung V, Smith J, Janicki S, Clouse R, Saint-Hilaire M, Hohler A, Turpin D, James RC, Rodriguez R, Rizer K, Anderson KE, Heller H, Carlson A, Criswell S, Racette BA, Revilla FJ, Nucifora F Jr, Margolis RL, Ong M, Mendis T, Mendis N, Singer C, Quesada M, Paulsen JS, Brashers-Krug T, Miller A, Kerr J, Dubinsky RM, Gray C, Factor SA, Sperin E, Molho E, Eglow M, Evans S, Kumar R, Reeves C, Samii A, Chouinard S, Beland M, Scott BL, Hickey PT, Esmail S, Fung WL, Gibbons C, Qi L, Colcher A, Hackmyer C, McGarry A, Klos K, Gudesblatt M, Fafard L, Graffitti L, Schneider DP, Dhall R, Wojcieszek JM, LaFaver K, Duker A, Neefus E, Wilson-Perez H, Shprecher D, Wall P, Blindauer KA, Wheeler L, Boyd JT, Houston E, Farbman ES, Agarwal P, Eberly SW, Watts A, Tariot PN, Feigin A, Evans S, Beck C, Orme C, Edicola J, Christopher E
JAMA 2016 Jul 5;316(1):40-50. doi: 10.1001/jama.2016.8655. PMID: 27380342
Mov Disord 1996 Mar;11(2):136-42. doi: 10.1002/mds.870110204. PMID: 8684382

Recent systematic reviews

Medina A, Mahjoub Y, Shaver L, Pringsheim T
Mov Disord 2022 Dec;37(12):2327-2335. Epub 2022 Sep 26 doi: 10.1002/mds.29228. PMID: 36161673Free PMC Article
Bianchi VE, Herrera PF, Laura R
Nutr Neurosci 2021 Oct;24(10):810-834. Epub 2019 Nov 4 doi: 10.1080/1028415X.2019.1681088. PMID: 31684843
Quinn L, Kegelmeyer D, Kloos A, Rao AK, Busse M, Fritz NE
Neurology 2020 Feb 4;94(5):217-228. Epub 2020 Jan 6 doi: 10.1212/WNL.0000000000008887. PMID: 31907286Free PMC Article
Fritz NE, Rao AK, Kegelmeyer D, Kloos A, Busse M, Hartel L, Carrier J, Quinn L
J Huntingtons Dis 2017;6(3):217-235. doi: 10.3233/JHD-170260. PMID: 28968244Free PMC Article
Pringsheim T, Wiltshire K, Day L, Dykeman J, Steeves T, Jette N
Mov Disord 2012 Aug;27(9):1083-91. Epub 2012 Jun 12 doi: 10.1002/mds.25075. PMID: 22692795

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