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Kuru, susceptibility to

MedGen UID:
343389
Concept ID:
C1855588
Disease or Syndrome
Synonyms: KURU, SUSCEPTIBILITY TO
 
Gene (location): PRNP (20p13)
OMIM®: 245300
Orphanet: ORPHA454745

Disease characteristics

Excerpted from the GeneReview: Genetic Prion Diseases
Genetic prion diseases generally manifest 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. Familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome, and fatal familial insomnia (FFI) represent the core phenotypes of genetic prion disease. Note: A fourth clinical phenotype, known as Huntington disease like-1 (HDL-1) has been proposed, but this is based on a single report, and the underlying pathologic features would categorize it as GSS. Although it is clear that these four subtypes 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 ranges from the third to ninth decade of life. The course ranges from a few months to several years (typically 5-7 years; in rare instances, >10 years). [from GeneReviews]
Authors:
James A Mastrianni   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 GHR
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://ghr.nlm.nih.gov/condition/prion-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.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Neurodegeneration
MedGen UID:
505144
Concept ID:
CN001976
Finding
Progressive loss of neural cells and tissue.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKuru, susceptibility to

Recent clinical studies

Etiology

Lukic A, Uphill J, Brown CA, Beck J, Poulter M, Campbell T, Adamson G, Hummerich H, Whitfield J, Ponto C, Zerr I, Lloyd SE, Collinge J, Mead S
Neurobiol Aging 2015 May;36(5):2004.e1-8. Epub 2015 Jan 22 doi: 10.1016/j.neurobiolaging.2015.01.011. [Epub ahead of print] PMID: 25726360
Yentur SP, Aydin HN, Gurses C, Demirbilek V, Kuru U, Uysal S, Yapici Z, Baris S, Yilmaz G, Cokar O, Onal E, Gokyigit A, Saruhan-Direskeneli G
Neuropediatrics 2014 Oct;45(5):309-13. Epub 2014 May 29 doi: 10.1055/s-0034-1378129. [Epub ahead of print] PMID: 24875585
Lee JH, Bae SE, Jung S, Ahn I, Son HS
Exp Mol Med 2013 Oct 11;45:e48. doi: 10.1038/emm.2013.100. PMID: 24113272Free PMC Article
Tural S, Alayli G, Kara N, Tander B, Bilgici A, Kuru O
Hum Immunol 2013 Sep;74(9):1179-83. Epub 2013 Apr 10 doi: 10.1016/j.humimm.2013.03.005. [Epub ahead of print] PMID: 23583365
Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Beck J, Campbell T, Al-Dujaily H, Hummerich H, Alpers MP, Collinge J
Philos Trans R Soc Lond B Biol Sci 2008 Nov 27;363(1510):3741-6. doi: 10.1098/rstb.2008.0087. PMID: 18849290Free PMC Article

Diagnosis

Haïk S, Brandel JP
Infect Genet Evol 2014 Aug;26:303-12. Epub 2014 Jun 20 doi: 10.1016/j.meegid.2014.06.010. [Epub ahead of print] PMID: 24956437
Imran M, Mahmood S
Virol J 2011 Dec 24;8:559. doi: 10.1186/1743-422X-8-559. [Epub ahead of print] PMID: 22196171Free PMC Article
Day RM, Matus IA, Suzuki YJ, Yeum KJ, Qin J, Park AM, Jain V, Kuru T, Tang G
Respirology 2009 Nov;14(8):1134-42. Epub 2009 Sep 16 doi: 10.1111/j.1440-1843.2009.01623.x. [Epub ahead of print] PMID: 19761534Free PMC Article
Narang HK
Exp Biol Med (Maywood) 2001 Jul;226(7):640-52. PMID: 11444100
Kuru B, Yilmaz S, Efeoğlu E
J Marmara Univ Dent Fac 1992 Sep;1(3):191-7. PMID: 1308776

Therapy

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. 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

Lee JH, Bae SE, Jung S, Ahn I, Son HS
Exp Mol Med 2013 Oct 11;45: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. PMID: 2568118
Weiner LP, Johnson RT
Birth Defects Orig Artic Ser 1971 Feb;7(1):72-7. PMID: 4950946

Clinical prediction guides

Lee JH, Bae SE, Jung S, Ahn I, Son HS
Exp Mol Med 2013 Oct 11;45:e48. doi: 10.1038/emm.2013.100. PMID: 24113272Free PMC Article
Birinci A, Bilgici A, Kuru O, Durupinar B
Rheumatol Int 2006 Feb;26(4):285-7. Epub 2005 Jul 20 doi: 10.1007/s00296-005-0614-x. [Epub ahead of print] PMID: 16032389
Goldfarb LG, Cervenakova L, Gajdusek DC
Curr Mol Med 2004 Jun;4(4):375-84. 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. [Epub ahead of print] PMID: 11120925
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

Recent systematic reviews

Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Rückert IM, Wichmann HE, Azazi D, Plagnol V, Pako WH, Whitfield J, Alpers MP, Whittaker J, Balding DJ, Zerr I, Kretzschmar H, Collinge J
Hum Mol Genet 2012 Apr 15;21(8):1897-906. Epub 2011 Dec 30 doi: 10.1093/hmg/ddr607. [Epub ahead of print] PMID: 22210626Free PMC Article

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