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520 results

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Page 1
Prion Disease.
Baldwin KJ, Correll CM. Baldwin KJ, et al. Semin Neurol. 2019 Aug;39(4):428-439. doi: 10.1055/s-0039-1687841. Epub 2019 Sep 18. Semin Neurol. 2019. PMID: 31533183 Review.
This article will review the pathophysiology, genetics, clinical presentations, and diagnostic challenges in patients with prion disease. Case discussions, images, and tables will be used to highlight important characteristics of prion disease and prio …
This article will review the pathophysiology, genetics, clinical presentations, and diagnostic challenges in patients with prion d …
Rapidly progressive dementias - aetiologies, diagnosis and management.
Hermann P, Zerr I. Hermann P, et al. Nat Rev Neurol. 2022 Jun;18(6):363-376. doi: 10.1038/s41582-022-00659-0. Epub 2022 May 4. Nat Rev Neurol. 2022. PMID: 35508635 Free PMC article. Review.
Some of these conditions are treatable, and some must be diagnosed promptly because of their potential infectivity. Prion disease is considered to be the prototypical RPD, but over the past two decades, epidemiological reports and the identification of various encep …
Some of these conditions are treatable, and some must be diagnosed promptly because of their potential infectivity. Prion disease …
Prion Diseases.
Geschwind MD. Geschwind MD. Continuum (Minneap Minn). 2015 Dec;21(6 Neuroinfectious Disease):1612-38. doi: 10.1212/CON.0000000000000251. Continuum (Minneap Minn). 2015. PMID: 26633779 Free PMC article. Review.
PURPOSE OF REVIEW: This article presents an update on the clinical aspects of human prion disease, including the wide spectrum of their presentations. ...A very rare polymorphism in the prion protein gene recently has been identified that appears to protect against …
PURPOSE OF REVIEW: This article presents an update on the clinical aspects of human prion disease, including the wide spectrum …
Prion Diseases.
Whitechurch BC, Welton JM, Collins SJ, Lawson VA. Whitechurch BC, et al. Adv Neurobiol. 2017;15:335-364. doi: 10.1007/978-3-319-57193-5_13. Adv Neurobiol. 2017. PMID: 28674988 Review.
Genetics of Synucleinopathies.
Nussbaum RL. Nussbaum RL. Cold Spring Harb Perspect Med. 2018 Jun 1;8(6):a024109. doi: 10.1101/cshperspect.a024109. Cold Spring Harb Perspect Med. 2018. PMID: 28213435 Free PMC article. Review.
Evidence is now emerging that alpha-synuclein aggregates can have different protein conformations, referred to as strains, similar to what has been shown in prion disease. The different phenotypes in hereditary PD/DLBD versus MSA are likely, therefore, to be the res …
Evidence is now emerging that alpha-synuclein aggregates can have different protein conformations, referred to as strains, similar to what h …
Clinical trials.
Mead S, Tagliavini F. Mead S, et al. Handb Clin Neurol. 2018;153:431-444. doi: 10.1016/B978-0-444-63945-5.00024-6. Handb Clin Neurol. 2018. PMID: 29887150
Alternative patient populations, including those at risk of genetic forms of prion disease, warrant more consideration. In the future, improved trial designs will be employed to test compounds designed specifically to treat prion diseases....
Alternative patient populations, including those at risk of genetic forms of prion disease, warrant more consideration. In the …
Prion diseases.
Takada LT, Geschwind MD. Takada LT, et al. Semin Neurol. 2013 Sep;33(4):348-56. doi: 10.1055/s-0033-1359314. Epub 2013 Nov 14. Semin Neurol. 2013. PMID: 24234356 Review.
They can be sporadic (Jakob-Creutzfeldt disease [JCD]), genetic (genetic JCD, Gerstmann-Straussler-Scheinker, and familial fatal insomnia), or acquired (kuru, variant JCD, and iatrogenic JCD). The clinical features associated with each form of prion disease, the neu …
They can be sporadic (Jakob-Creutzfeldt disease [JCD]), genetic (genetic JCD, Gerstmann-Straussler-Scheinker, and familial fatal insomnia), …
The prion diseases.
Brown K, Mastrianni JA. Brown K, et al. J Geriatr Psychiatry Neurol. 2010 Dec;23(4):277-98. doi: 10.1177/0891988710383576. Epub 2010 Oct 11. J Geriatr Psychiatry Neurol. 2010. PMID: 20938044 Review.
This paper will review some of the general background related to prion biology and detail the clinical and pathologic features of the major prion diseases, with a particular focus on the genetic aspects that result in prion disease or modification of its risk or phe …
This paper will review some of the general background related to prion biology and detail the clinical and pathologic features of the major …
Genetic counseling for prion disease: Updates and best practices.
Goldman JS, Vallabh SM. Goldman JS, et al. Genet Med. 2022 Oct;24(10):1993-2003. doi: 10.1016/j.gim.2022.06.003. Epub 2022 Jul 12. Genet Med. 2022. PMID: 35819418 Free article. Review.
Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. ...Several recent developments inspire this update in best practices for prion disease genetic counseling. A new prion-detection assay has transformed symptomatic …
Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. ...Several recent developments inspir …
Prion diseases.
Johnson RT. Johnson RT. Lancet Neurol. 2005 Oct;4(10):635-42. doi: 10.1016/S1474-4422(05)70192-7. Lancet Neurol. 2005. PMID: 16168932 Review.
Prion diseases are degenerative disorders of the nervous system caused by transmissible particles that contain a pathogenic isoform of the prion protein, a normal constituent of cell membranes. The most common human prion disease is Creutzfeldt-Jakob disease (CJD). …
Prion diseases are degenerative disorders of the nervous system caused by transmissible particles that contain a pathogenic isoform of the p …
520 results