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Kuru, susceptibility to

MedGen UID:
343389
Concept ID:
C1855588
Disease or Syndrome
Synonym: KURU, SUSCEPTIBILITY TO
 
Gene (location): PRNP (20p13)
 
Monarch Initiative: MONDO:0009500
OMIM®: 245300

Disease characteristics

Excerpted from the GeneReview: Genetic Prion Disease
Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome. [from GeneReviews]
Authors:
Inga Zerr  |  Matthias Schmitz   view full author information

Additional descriptions

From OMIM
Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).  http://www.omim.org/entry/245300
From MedlinePlus Genetics
Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.  https://medlineplus.gov/genetics/condition/prion-disease

Professional guidelines

PubMed

Lee HS, Brown P, Cervenáková L, Garruto RM, Alpers MP, Gajdusek DC, Goldfarb LG
J Infect Dis 2001 Jan 15;183(2):192-196. Epub 2000 Dec 21 doi: 10.1086/317935. PMID: 11120925

Recent clinical studies

Etiology

Contiliani DF, Ribeiro YA, de Moraes VN, Pereira TC
Cells 2021 Jun 29;10(7) doi: 10.3390/cells10071620. PMID: 34209482Free PMC Article
Mead S, Lloyd S, Collinge J
Annu Rev Genet 2019 Dec 3;53:117-147. Epub 2019 Sep 19 doi: 10.1146/annurev-genet-120213-092352. PMID: 31537104
Liberski PP, Sikorska B, Lindenbaum S, Goldfarb LG, McLean C, Hainfellner JA, Brown P
J Neuropathol Exp Neurol 2012 Feb;71(2):92-103. doi: 10.1097/NEN.0b013e3182444efd. PMID: 22249461Free PMC Article
Goldfarb LG, Cervenakova L, Gajdusek DC
Curr Mol Med 2004 Jun;4(4):375-84. doi: 10.2174/1566524043360627. PMID: 15354868
Goldfarb LG, Brown P
Annu Rev Med 1995;46:57-65. doi: 10.1146/annurev.med.46.1.57. PMID: 7598484

Diagnosis

Contiliani DF, Ribeiro YA, de Moraes VN, Pereira TC
Cells 2021 Jun 29;10(7) doi: 10.3390/cells10071620. PMID: 34209482Free PMC Article
Haïk S, Brandel JP
Infect Genet Evol 2014 Aug;26:303-12. Epub 2014 Jun 20 doi: 10.1016/j.meegid.2014.06.010. PMID: 24956437
Imran M, Mahmood S
Virol J 2011 Dec 24;8:559. doi: 10.1186/1743-422X-8-559. PMID: 22196171Free PMC Article
Narang HK
Exp Biol Med (Maywood) 2001 Jul;226(7):640-52. doi: 10.1177/153537020222600710. PMID: 11444100
Goldfarb LG, Brown P
Annu Rev Med 1995;46:57-65. doi: 10.1146/annurev.med.46.1.57. PMID: 7598484

Therapy

Contiliani DF, Ribeiro YA, de Moraes VN, Pereira TC
Cells 2021 Jun 29;10(7) doi: 10.3390/cells10071620. PMID: 34209482Free PMC Article
Garruto RM, Yanagihara R
Folia Neuropathol 2009;47(2):149-70. PMID: 19618338
Caksen H, Arslan S, Cesur Y, Sar S, Celebi V, Kuru M
Ceylon Med J 2000 Jun;45(2):77-9. doi: 10.4038/cmj.v45i2.8007. PMID: 11051706
Asher DM, Gibbs CJ Jr, Sulima MP, Bacote A, Amyx H, Gajdusek DC
Dev Biol Stand 1993;80:9-13. PMID: 8270119

Prognosis

Wu Y, Kuru O, Campbell SW, Baruh L
Health Commun 2023 Jun;38(7):1416-1429. Epub 2022 Jan 3 doi: 10.1080/10410236.2021.2010891. PMID: 34978236
Nakamura R, Sone J, Atsuta N, Tohnai G, Watanabe H, Yokoi D, Nakatochi M, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Tsuji S, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)
Neurobiol Aging 2016 Mar;39:219.e1-8. Epub 2015 Dec 7 doi: 10.1016/j.neurobiolaging.2015.11.030. PMID: 26742954
Lee JH, Bae SE, Jung S, Ahn I, Son HS
Exp Mol Med 2013 Oct 11;45(10):e48. doi: 10.1038/emm.2013.100. PMID: 24113272Free PMC Article
Gajdusek DC
Mol Neurobiol 1994 Feb;8(1):1-13. doi: 10.1007/BF02778003. PMID: 8086124
Prusiner SB
Alzheimer Dis Assoc Disord 1989 Spring-Summer;3(1-2):52-78. doi: 10.1097/00002093-198903010-00007. PMID: 2568118

Clinical prediction guides

Wu Y, Kuru O, Campbell SW, Baruh L
Health Commun 2023 Jun;38(7):1416-1429. Epub 2022 Jan 3 doi: 10.1080/10410236.2021.2010891. PMID: 34978236
Onodera T, Sakudo A, Wu G, Saeki K
Microbiol Immunol 2006;50(8):565-78. doi: 10.1111/j.1348-0421.2006.tb03831.x. PMID: 16924141
Goldfarb LG, Cervenakova L, Gajdusek DC
Curr Mol Med 2004 Jun;4(4):375-84. doi: 10.2174/1566524043360627. PMID: 15354868
Lee HS, Brown P, Cervenáková L, Garruto RM, Alpers MP, Gajdusek DC, Goldfarb LG
J Infect Dis 2001 Jan 15;183(2):192-196. Epub 2000 Dec 21 doi: 10.1086/317935. PMID: 11120925
Prusiner SB
Alzheimer Dis Assoc Disord 1989 Spring-Summer;3(1-2):52-78. doi: 10.1097/00002093-198903010-00007. PMID: 2568118

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