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Huntington chorea(HD)

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
Synonyms: HD; Huntington Disease; Huntington's chorea; Huntington's disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: HC - Huntington chorea (58756001); HD - Huntington chorea (58756001); Huntington chorea (58756001); Huntington's chorea (58756001); Chronic progressive chorea (58756001); Chronic progressive hereditary chorea (58756001)
 
Genes (locations): HTT (4p16.3); TBX18 (6q14.3)
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:
Simon C Warby  |  Rona K Graham  |  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 GHR
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).Adult-onset Huntington 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 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 disease usually live about 15 to 20 years after signs and symptoms begin.A less common form of Huntington 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 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://ghr.nlm.nih.gov/condition/huntington-disease

Clinical features

Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding

Professional guidelines

PubMed

Craufurd D, MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, Hjermind LE, Lahiri N, Mandich P, Martinez A, Tibben A, Roos RA; Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network (EHDN).
Pract Neurol 2015 Feb;15(1):80-4. Epub 2014 Aug 28 doi: 10.1136/practneurol-2013-000790. PMID: 25169240
Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN).
Eur J Hum Genet 2013 May;21(5):480-6. Epub 2012 Sep 19 doi: 10.1038/ejhg.2012.200. PMID: 22990145Free PMC Article
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network.
Clin Genet 2013 Mar;83(3):221-31. Epub 2012 Jul 30 doi: 10.1111/j.1399-0004.2012.01900.x. PMID: 22642570
Armstrong MJ, Miyasaki JM; American Academy of Neurology.
Neurology 2012 Aug 7;79(6):597-603. Epub 2012 Jul 18 doi: 10.1212/WNL.0b013e318263c443. PMID: 22815556Free PMC Article
Potter NT, Spector EB, Prior TW
Genet Med 2004 Jan-Feb;6(1):61-5. doi: 10.109701.GIM.0000106165.74751.15. PMID: 14726813
Am J Hum Genet 1998 May;62(5):1243-7. PMID: 9545416Free PMC Article
Am J Hum Genet 1995 Nov;57(5):1233-41. PMID: 7485175Free PMC Article
Neurology 1994 Aug;44(8):1533-6. PMID: 8058167
J Med Genet 1994 Jul;31(7):555-9. PMID: 7966192Free PMC Article
J Neurol Sci 1989 Dec;94(1-3):327-32. PMID: 2533250

Recent clinical studies

Etiology

Somenarain L, Jones LB
J Psychiatr Res 2010 Aug;44(11):694-9. Epub 2010 Jan 22 doi: 10.1016/j.jpsychires.2009.12.006. PMID: 20092829
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Lamport AT
Am J Med Genet 1987 Feb;26(2):307-14. doi: 10.1002/ajmg.1320260208. PMID: 2949614
Smurl JF, Weaver DD
Am J Med Genet 1987 Feb;26(2):247-57. doi: 10.1002/ajmg.1320260203. PMID: 2949609
Martello N, Santos JL, Frota-Pessoa O
J Genet Hum 1978 Mar;26(1):33-53. PMID: 149840

Diagnosis

Sadeghian H, O'Suilleabhain PE, Battiste J, Elliott JL, Trivedi JR
Arch Neurol 2011 May;68(5):650-2. doi: 10.1001/archneurol.2011.76. PMID: 21555641
Somenarain L, Jones LB
J Psychiatr Res 2010 Aug;44(11):694-9. Epub 2010 Jan 22 doi: 10.1016/j.jpsychires.2009.12.006. PMID: 20092829
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Lamport AT
Am J Med Genet 1987 Feb;26(2):307-14. doi: 10.1002/ajmg.1320260208. PMID: 2949614
Smurl JF, Weaver DD
Am J Med Genet 1987 Feb;26(2):247-57. doi: 10.1002/ajmg.1320260203. PMID: 2949609

Therapy

Chen JJ, Ondo WG, Dashtipour K, Swope DM
Clin Ther 2012 Jul;34(7):1487-504. Epub 2012 Jun 28 doi: 10.1016/j.clinthera.2012.06.010. PMID: 22749259
Tsuneizumi T, Anai K, Aoba A, Yamaguchi N, Takagi H, Chishima T, Sakai T, Negishi K, Kamimura M, Takeshita T
Prog Neuropsychopharmacol Biol Psychiatry 1994 Jul;18(4):823-9. PMID: 7938569
Smurl JF, Weaver DD
Am J Med Genet 1987 Feb;26(2):247-57. doi: 10.1002/ajmg.1320260203. PMID: 2949609
Aquilonius SM, Eckernas SA
Neurology 1977 Sep;27(9):887-9. PMID: 142929
Pearce I, Heathfield KW, Pearce MJ
Arch Neurol 1977 May;34(5):308-9. PMID: 140642

Prognosis

Liu CS, Cheng WL, Kuo SJ, Li JY, Soong BW, Wei YH
J Neurol Sci 2008 Jan 15;264(1-2):18-21. Epub 2007 Aug 27 doi: 10.1016/j.jns.2007.07.016. PMID: 17720200
O'Suilleabhain P, Dewey RB Jr
Arch Neurol 2003 Jul;60(7):996-8. doi: 10.1001/archneur.60.7.996. PMID: 12873857
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Morales AJ, Murphy EA, Krush AJ
Am J Med Genet 1984 Apr;17(4):783-801. doi: 10.1002/ajmg.1320170409. PMID: 6720745
Goebel HH, Heipertz R, Scholz W, Iqbal K, Tellez-Nagel I
Neurology 1978 Jan;28(1):23-31. PMID: 145549

Clinical prediction guides

Lee SJ, Lee WY, Kim YK, An YS, Cho JW, Choi JY, Kim BT, Lee KH
Clin Nucl Med 2012 Jul;37(7):663-8. doi: 10.1097/RLU.0b013e3182478bf2. PMID: 22691507
Somenarain L, Jones LB
J Psychiatr Res 2010 Aug;44(11):694-9. Epub 2010 Jan 22 doi: 10.1016/j.jpsychires.2009.12.006. PMID: 20092829
O'Suilleabhain P, Dewey RB Jr
Arch Neurol 2003 Jul;60(7):996-8. doi: 10.1001/archneur.60.7.996. PMID: 12873857
Tsuneizumi T, Anai K, Aoba A, Yamaguchi N, Takagi H, Chishima T, Sakai T, Negishi K, Kamimura M, Takeshita T
Prog Neuropsychopharmacol Biol Psychiatry 1994 Jul;18(4):823-9. PMID: 7938569
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513

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