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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]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
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

Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype.
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

MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.
Contiliani DF, Ribeiro YA, de Moraes VN, Pereira TC
Cells 2021 Jun 29;10(7) doi: 10.3390/cells10071620. PMID: 34209482Free PMC Article
Genetic Factors in Mammalian Prion Diseases.
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
Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
Akdeniz D, Tuncer SB, Kebudi R, Celik B, Kuru G, Kilic S, Sukruoglu Erdogan O, Avsar M, Buyukkapu Bay S, Tuncer S, Yazici H
Mol Genet Genomic Med 2019 Aug;7(8):e785. Epub 2019 Jun 17 doi: 10.1002/mgg3.785. PMID: 31207142Free PMC Article
Kuru: genes, cannibals and neuropathology.
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
The transmissible spongiform encephalopathies.
Goldfarb LG, Brown P
Annu Rev Med 1995;46:57-65. doi: 10.1146/annurev.med.46.1.57. PMID: 7598484

Diagnosis

Mutation screening of the DNAJC7 gene in Japanese patients with sporadic amyotrophic lateral sclerosis.
Tohnai G, Nakamura R, Atsuta N, Nakatochi M, Hayashi N, Ito D, Watanabe H, Watanabe H, Katsuno M, Izumi Y, Taniguchi A, Kanai K, Morita M, Kano O, Kuwabara S, Oda M, Abe K, Aoki M, Aiba I, Okamoto K, Mizoguchi K, Ishihara T, Kawata A, Yokota T, Hasegawa K, Nagano I, Yabe I, Tanaka F, Kuru S, Hattori N, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS)
Neurobiol Aging 2022 May;113:131-136. Epub 2021 Dec 11 doi: 10.1016/j.neurobiolaging.2021.12.002. PMID: 35039179
MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.
Contiliani DF, Ribeiro YA, de Moraes VN, Pereira TC
Cells 2021 Jun 29;10(7) doi: 10.3390/cells10071620. PMID: 34209482Free PMC Article
Infectious prion diseases in humans: cannibalism, iatrogenicity and zoonoses.
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
An overview of human prion diseases.
Imran M, Mahmood S
Virol J 2011 Dec 24;8:559. doi: 10.1186/1743-422X-8-559. PMID: 22196171Free PMC Article
The transmissible spongiform encephalopathies.
Goldfarb LG, Brown P
Annu Rev Med 1995;46:57-65. doi: 10.1146/annurev.med.46.1.57. PMID: 7598484

Therapy

MicroRNAs in Prion Diseases-From Molecular Mechanisms to Insights in Translational Medicine.
Contiliani DF, Ribeiro YA, de Moraes VN, Pereira TC
Cells 2021 Jun 29;10(7) doi: 10.3390/cells10071620. PMID: 34209482Free PMC Article
Contributions of isolated Pacific populations to understanding neurodegenerative diseases.
Garruto RM, Yanagihara R
Folia Neuropathol 2009;47(2):149-70. PMID: 19618338
Urinary tract infection and antibiotic susceptibility in malnourished children.
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
Transmission of human spongiform encephalopathies to experimental animals: comparison of the chimpanzee and squirrel monkey.
Asher DM, Gibbs CJ Jr, Sulima MP, Bacote A, Amyx H, Gajdusek DC
Dev Biol Stand 1993;80:9-13. PMID: 8270119

Prognosis

Explaining Health Misinformation Belief through News, Social, and Alternative Health Media Use: The Moderating Roles of Need for Cognition and Faith in Intuition.
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
Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
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
Discriminant analysis of prion sequences for prediction of susceptibility.
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
Spontaneous generation of infectious nucleating amyloids in the transmissible and nontransmissible cerebral amyloidoses.
Gajdusek DC
Mol Neurobiol 1994 Feb;8(1):1-13. doi: 10.1007/BF02778003. PMID: 8086124
Creutzfeldt-Jakob disease and scrapie prions.
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

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.
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
Genetic studies in relation to kuru: an overview.
Goldfarb LG, Cervenakova L, Gajdusek DC
Curr Mol Med 2004 Jun;4(4):375-84. doi: 10.2174/1566524043360627. PMID: 15354868
Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype.
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
Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.
Goldfarb LG, Brown P, Haltia M, Cathala F, McCombie WR, Kovanen J, Cervenáková L, Goldin L, Nieto A, Godec MS
Ann Neurol 1992 Mar;31(3):274-81. doi: 10.1002/ana.410310308. PMID: 1353341
Creutzfeldt-Jakob disease and scrapie prions.
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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