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Genetic prion diseases

MedGen UID:
56445
Concept ID:
C0162534
Disease or Syndrome
Synonyms: Dementia, Transmissible; Dementias, Transmissible; Disorder, Prion-Induced; Disorders, Prion-Induced; Encephalopathies, Spongiform, Transmissible; Encephalopathies, Transmissible Spongiform; Encephalopathy, Transmissible Spongiform; Prion Disease; Prion Diseases; Prion Induced Disorder; Prion Protein Disease; Prion Protein Diseases; Prion-Associated Disorders; Prion-Induced Disorder; Prion-Induced Disorders; Spongiform Encephalopathies, Transmissible; Spongiform Encephalopathy, Transmissible; Transmissible Dementia; Transmissible Dementias; Transmissible Spongiform Encephalopathies; Transmissible Spongiform Encephalopathy
SNOMED CT: Prion disease (20484008)
 
Related genes: PRNP, HLA-DQB1
Orphanet: ORPHA56970

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 description

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

Recent clinical studies

Etiology

Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I
Eur J Epidemiol 2016 Feb;31(2):187-96. Epub 2015 Jun 16 doi: 10.1007/s10654-015-0049-y. PMID: 26076917
Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Zhang XC, Shen XJ, Li Q, Deng LQ, Dong JH, Lin WQ, Huang P, Jiang WJ, Lv J, Han J, Dong XP
PLoS One 2015;10(10):e0139552. Epub 2015 Oct 21 doi: 10.1371/journal.pone.0139552. PMID: 26488179Free PMC Article
Higuma M, Sanjo N, Satoh K, Shiga Y, Sakai K, Nozaki I, Hamaguchi T, Nakamura Y, Kitamoto T, Shirabe S, Murayama S, Yamada M, Tateishi J, Mizusawa H
PLoS One 2013;8(3):e60003. Epub 2013 Mar 28 doi: 10.1371/journal.pone.0060003. PMID: 23555862Free PMC Article
Nozaki I, Hamaguchi T, Sanjo N, Noguchi-Shinohara M, Sakai K, Nakamura Y, Sato T, Kitamoto T, Mizusawa H, Moriwaka F, Shiga Y, Kuroiwa Y, Nishizawa M, Kuzuhara S, Inuzuka T, Takeda M, Kuroda S, Abe K, Murai H, Murayama S, Tateishi J, Takumi I, Shirabe S, Harada M, Sadakane A, Yamada M
Brain 2010 Oct;133(10):3043-57. Epub 2010 Sep 20 doi: 10.1093/brain/awq216. PMID: 20855418
Krasnianski A, von Ahsen N, Heinemann U, Meissner B, Kretzschmar HA, Armstrong VW, Zerr I
J Mol Neurosci 2008;34(1):45-50. Epub 2007 Sep 11 doi: 10.1007/s12031-007-9001-2. PMID: 18157657

Diagnosis

Takada LT, Kim MO, Cleveland RW, Wong K, Forner SA, Gala II, Fong JC, Geschwind MD
Am J Med Genet B Neuropsychiatr Genet 2017 Jan;174(1):36-69. doi: 10.1002/ajmg.b.32505. PMID: 27943639
Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti P, Zhang S, Hughson A, Tatsuoka C, Schonberger LB, Cohen ML, Caughey B, Safar JG
Ann Neurol 2017 Jan;81(1):79-92. doi: 10.1002/ana.24833. PMID: 27893164Free PMC Article
Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I
Eur J Epidemiol 2016 Feb;31(2):187-96. Epub 2015 Jun 16 doi: 10.1007/s10654-015-0049-y. PMID: 26076917
Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Zhang XC, Shen XJ, Li Q, Deng LQ, Dong JH, Lin WQ, Huang P, Jiang WJ, Lv J, Han J, Dong XP
PLoS One 2015;10(10):e0139552. Epub 2015 Oct 21 doi: 10.1371/journal.pone.0139552. PMID: 26488179Free PMC Article
Higuma M, Sanjo N, Satoh K, Shiga Y, Sakai K, Nozaki I, Hamaguchi T, Nakamura Y, Kitamoto T, Shirabe S, Murayama S, Yamada M, Tateishi J, Mizusawa H
PLoS One 2013;8(3):e60003. Epub 2013 Mar 28 doi: 10.1371/journal.pone.0060003. PMID: 23555862Free PMC Article

Prognosis

Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti P, Zhang S, Hughson A, Tatsuoka C, Schonberger LB, Cohen ML, Caughey B, Safar JG
Ann Neurol 2017 Jan;81(1):79-92. doi: 10.1002/ana.24833. PMID: 27893164Free PMC Article
Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I
Eur J Epidemiol 2016 Feb;31(2):187-96. Epub 2015 Jun 16 doi: 10.1007/s10654-015-0049-y. PMID: 26076917
Shi Q, Zhou W, Chen C, Zhang BY, Xiao K, Zhang XC, Shen XJ, Li Q, Deng LQ, Dong JH, Lin WQ, Huang P, Jiang WJ, Lv J, Han J, Dong XP
PLoS One 2015;10(10):e0139552. Epub 2015 Oct 21 doi: 10.1371/journal.pone.0139552. PMID: 26488179Free PMC Article
Komatsu J, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M
Prion 2014;8(5):336-8. doi: 10.4161/19336896.2014.971569. PMID: 25495585Free PMC Article
Higuma M, Sanjo N, Satoh K, Shiga Y, Sakai K, Nozaki I, Hamaguchi T, Nakamura Y, Kitamoto T, Shirabe S, Murayama S, Yamada M, Tateishi J, Mizusawa H
PLoS One 2013;8(3):e60003. Epub 2013 Mar 28 doi: 10.1371/journal.pone.0060003. PMID: 23555862Free PMC Article

Clinical prediction guides

Foutz A, Appleby BS, Hamlin C, Liu X, Yang S, Cohen Y, Chen W, Blevins J, Fausett C, Wang H, Gambetti P, Zhang S, Hughson A, Tatsuoka C, Schonberger LB, Cohen ML, Caughey B, Safar JG
Ann Neurol 2017 Jan;81(1):79-92. doi: 10.1002/ana.24833. PMID: 27893164Free PMC Article
Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I
Eur J Epidemiol 2016 Feb;31(2):187-96. Epub 2015 Jun 16 doi: 10.1007/s10654-015-0049-y. PMID: 26076917
Frontzek K, Moos R, Schaper E, Jann L, Herfs G, Zimmermann DR, Aguzzi A, Budka H
Prion 2015;9(6):444-8. doi: 10.1080/19336896.2015.1121356. PMID: 26634863Free PMC Article
Qina T, Sanjo N, Hizume M, Higuma M, Tomita M, Atarashi R, Satoh K, Nozaki I, Hamaguchi T, Nakamura Y, Kobayashi A, Kitamoto T, Murayama S, Murai H, Yamada M, Mizusawa H
BMJ Open 2014 May 16;4(5):e004968. doi: 10.1136/bmjopen-2014-004968. PMID: 24838726Free PMC Article
Popova SN, Tarvainen I, Capellari S, Parchi P, Hannikainen P, Pirinen E, Haapasalo H, Alafuzoff I
Acta Neurol Scand 2012 Nov;126(5):315-23. Epub 2012 Jan 3 doi: 10.1111/j.1600-0404.2011.01628.x. PMID: 22211828

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