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Inherited prion disease

MedGen UID:
1826145
Concept ID:
C5679775
Disease or Syndrome
Synonym: Genetic prion disease
 
Related genes: PRNP, HLA-DQB1
 
Orphanet: ORPHA280400

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

Professional guidelines

PubMed

Paucar M, Xiang F, Moore R, Walker R, Winnberg E, Svenningsson P
Prion 2013 Nov-Dec;7(6):501-10. Epub 2013 Nov 25 doi: 10.4161/pri.27260. PMID: 24275071Free PMC Article
Wild EJ, Tabrizi SJ
Pract Neurol 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. PMID: 18024776

Recent clinical studies

Etiology

Corbie R, Campbell T, Darwent L, Rudge P, Collinge J, Mead S
Eur J Hum Genet 2022 Oct;30(10):1167-1170. Epub 2022 Jun 27 doi: 10.1038/s41431-022-01132-8. PMID: 35754056Free PMC Article
Mole J, Mead S, Rudge P, Nihat A, Mok T, Collinge J, Caine D
Brain 2021 Apr 12;144(3):989-998. doi: 10.1093/brain/awaa409. PMID: 33844831
Onodera T, Sakudo A
Curr Issues Mol Biol 2020;36:63-66. Epub 2019 Sep 27 doi: 10.21775/cimb.036.063. PMID: 31559970
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
Rudge P, Jaunmuktane Z, Hyare H, Ellis M, Koltzenburg M, Collinge J, Brandner S, Mead S
Brain 2019 Mar 1;142(3):760-770. doi: 10.1093/brain/awy358. PMID: 30698738Free PMC Article

Diagnosis

Mok TH, Nihat A, Majbour N, Sequeira D, Holm-Mercer L, Coysh T, Darwent L, Batchelor M, Groveman BR, Orr CD, Hughson AG, Heslegrave A, Laban R, Veleva E, Paterson RW, Keshavan A, Schott JM, Swift IJ, Heller C, Rohrer JD, Gerhard A, Butler C, Rowe JB, Masellis M, Chapman M, Lunn MP, Bieschke J, Jackson GS, Zetterberg H, Caughey B, Rudge P, Collinge J, Mead S
Brain 2023 Jun 1;146(6):2570-2583. doi: 10.1093/brain/awad101. PMID: 36975162Free PMC Article
Mole J, Mead S, Rudge P, Nihat A, Mok T, Collinge J, Caine D
Brain 2021 Apr 12;144(3):989-998. doi: 10.1093/brain/awaa409. PMID: 33844831
Rudge P, Jaunmuktane Z, Hyare H, Ellis M, Koltzenburg M, Collinge J, Brandner S, Mead S
Brain 2019 Mar 1;142(3):760-770. doi: 10.1093/brain/awy358. PMID: 30698738Free PMC Article
Llorens F, Zarranz JJ, Fischer A, Zerr I, Ferrer I
Curr Neurol Neurosci Rep 2017 Apr;17(4):30. doi: 10.1007/s11910-017-0743-0. PMID: 28324299
Collinge J, Palmer MS
Dementia 1993 May-Aug;4(3-4):178-85. doi: 10.1159/000107320. PMID: 8401789

Therapy

Thompson AG, Lowe J, Fox Z, Lukic A, Porter MC, Ford L, Gorham M, Gopalakrishnan GS, Rudge P, Walker AS, Collinge J, Mead S
Brain 2013 Apr;136(Pt 4):1116-27. doi: 10.1093/brain/awt048. PMID: 23550114
Wild EJ, Tabrizi SJ
Pract Neurol 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. PMID: 18024776

Prognosis

Mok TH, Nihat A, Majbour N, Sequeira D, Holm-Mercer L, Coysh T, Darwent L, Batchelor M, Groveman BR, Orr CD, Hughson AG, Heslegrave A, Laban R, Veleva E, Paterson RW, Keshavan A, Schott JM, Swift IJ, Heller C, Rohrer JD, Gerhard A, Butler C, Rowe JB, Masellis M, Chapman M, Lunn MP, Bieschke J, Jackson GS, Zetterberg H, Caughey B, Rudge P, Collinge J, Mead S
Brain 2023 Jun 1;146(6):2570-2583. doi: 10.1093/brain/awad101. PMID: 36975162Free PMC Article
Ximelis T, Marín-Moreno A, Espinosa JC, Eraña H, Charco JM, Hernández I, Riveira C, Alcolea D, González-Roca E, Aldecoa I, Molina-Porcel L, Parchi P, Rossi M, Castilla J, Ruiz-García R, Gelpi E, Torres JM, Sánchez-Valle R
Alzheimers Res Ther 2021 Oct 18;13(1):176. doi: 10.1186/s13195-021-00912-6. PMID: 34663460Free PMC Article
Mole J, Mead S, Rudge P, Nihat A, Mok T, Collinge J, Caine D
Brain 2021 Apr 12;144(3):989-998. doi: 10.1093/brain/awaa409. PMID: 33844831
Rudge P, Jaunmuktane Z, Hyare H, Ellis M, Koltzenburg M, Collinge J, Brandner S, Mead S
Brain 2019 Mar 1;142(3):760-770. doi: 10.1093/brain/awy358. PMID: 30698738Free PMC Article
Franko E, Wehner T, Joly O, Lowe J, Porter MC, Kenny J, Thompson A, Rudge P, Collinge J, Mead S
J Neurol Neurosurg Psychiatry 2016 Oct;87(10):1061-7. Epub 2016 Jul 13 doi: 10.1136/jnnp-2016-313501. PMID: 27413165Free PMC Article

Clinical prediction guides

Mok TH, Nihat A, Majbour N, Sequeira D, Holm-Mercer L, Coysh T, Darwent L, Batchelor M, Groveman BR, Orr CD, Hughson AG, Heslegrave A, Laban R, Veleva E, Paterson RW, Keshavan A, Schott JM, Swift IJ, Heller C, Rohrer JD, Gerhard A, Butler C, Rowe JB, Masellis M, Chapman M, Lunn MP, Bieschke J, Jackson GS, Zetterberg H, Caughey B, Rudge P, Collinge J, Mead S
Brain 2023 Jun 1;146(6):2570-2583. doi: 10.1093/brain/awad101. PMID: 36975162Free PMC Article
Corbie R, Campbell T, Darwent L, Rudge P, Collinge J, Mead S
Eur J Hum Genet 2022 Oct;30(10):1167-1170. Epub 2022 Jun 27 doi: 10.1038/s41431-022-01132-8. PMID: 35754056Free PMC Article
Ximelis T, Marín-Moreno A, Espinosa JC, Eraña H, Charco JM, Hernández I, Riveira C, Alcolea D, González-Roca E, Aldecoa I, Molina-Porcel L, Parchi P, Rossi M, Castilla J, Ruiz-García R, Gelpi E, Torres JM, Sánchez-Valle R
Alzheimers Res Ther 2021 Oct 18;13(1):176. doi: 10.1186/s13195-021-00912-6. PMID: 34663460Free PMC Article
Mole J, Mead S, Rudge P, Nihat A, Mok T, Collinge J, Caine D
Brain 2021 Apr 12;144(3):989-998. doi: 10.1093/brain/awaa409. PMID: 33844831
Rudge P, Jaunmuktane Z, Hyare H, Ellis M, Koltzenburg M, Collinge J, Brandner S, Mead S
Brain 2019 Mar 1;142(3):760-770. doi: 10.1093/brain/awy358. PMID: 30698738Free PMC Article

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