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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.
SUMMARY: Sporadic Jakob-Creutzfeldt disease is the most common form of human prion disease. Genetic prion diseases, resulting from mutations in the prion-related protein gene (PRNP), are classified based on the mutation, clinical phenotype, and neuropathologi …
SUMMARY: Sporadic Jakob-Creutzfeldt disease is the most common form of human prion disease. Genetic prion diseases, res …
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.
Sporadic JCD is the most common form of human prion disease, and will be discussed in detail. Genetic prion diseases are caused by mutations in the prion-related protein gene (PRNP), and they are classified based on the mutation, clinical phenotype, and neuro …
Sporadic JCD is the most common form of human prion disease, and will be discussed in detail. Genetic prion diseases ar …
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Chen Z, Chu M, Liu L, Zhang J, Kong Y, Xie K, Cui Y, Ye H, Li J, Wang L, Wu L. Chen Z, et al. Alzheimers Res Ther. 2022 Jun 29;14(1):90. doi: 10.1186/s13195-022-01033-4. Alzheimers Res Ther. 2022. PMID: 35768878 Free PMC article. Review.
BACKGROUND: To elucidate the clinical and ancillary features of genetic prion diseases (gPrDs) presenting with frontotemporal dementia (FTD) to aid early identification. ...
BACKGROUND: To elucidate the clinical and ancillary features of genetic prion diseases (gPrDs) presenting with frontote …
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Schmitz M, Villar-Piqué A, Hermann P, Escaramís G, Calero M, Chen C, Kruse N, Cramm M, Golanska E, Sikorska B, Liberski PP, Pocchiari M, Lange P, Stehmann C, Sarros S, Martí E, Baldeiras I, Santana I, Žáková D, Mitrová E, Dong XP, Collins S, Poleggi A, Ladogana A, Mollenhauer B, Kovacs GG, Geschwind MD, Sánchez-Valle R, Zerr I, Llorens F. Schmitz M, et al. Brain. 2022 Apr 18;145(2):700-712. doi: 10.1093/brain/awab350. Brain. 2022. PMID: 35288744 Free PMC article.
Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence variations in the prion protein gene, PRNP. Data on CSF biomarkers in patients with genetic prion diseases are limited …
Genetic prion diseases are a rare and diverse group of fatal neurodegenerative disorders caused by pathogenic sequence …
The genetics of prion diseases.
Mastrianni JA. Mastrianni JA. Genet Med. 2010 Apr;12(4):187-95. doi: 10.1097/GIM.0b013e3181cd7374. Genet Med. 2010. PMID: 20216075 Free article. Review.
This review will focus on the clinical and histopathologic features of the genetic prion diseases. Selected mutations will be highlighted as a way to illustrate general phenotype-genotype correlations....
This review will focus on the clinical and histopathologic features of the genetic prion diseases. Selected mutations w …
Clinical findings and diagnosis in genetic prion diseases in Germany.
Krasnianski A, Heinemann U, Ponto C, Kortt J, Kallenberg K, Varges D, Schulz-Schaeffer WJ, Kretzschmar HA, Zerr I. Krasnianski A, et al. Eur J Epidemiol. 2016 Feb;31(2):187-96. doi: 10.1007/s10654-015-0049-y. Epub 2015 Jun 16. Eur J Epidemiol. 2016. PMID: 26076917
To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinical features, MRI, EEG, and CSF markers were studied in 91 patients (28 D178N, 20 E200K, 17 inserts, 13 V210I, 8 P102L, 5 E196K). ...
To describe the clinical syndrome and diagnostic tests in patients with genetic prion diseases (gPD) in Germany. Clinic …
Understanding the Effect of Disease-Related Mutations on Human Prion Protein Structure: Insights From NMR Spectroscopy.
Biljan I, Ilc G, Plavec J. Biljan I, et al. Prog Mol Biol Transl Sci. 2017;150:83-103. doi: 10.1016/bs.pmbts.2017.06.006. Epub 2017 Jul 26. Prog Mol Biol Transl Sci. 2017. PMID: 28838676 Review.
The central molecular event of prion diseases is the conformational conversion of the physiological cellular prion protein, PrP(C), into a disease-associated form known as prion or PrP(Sc). Spontaneous generation of prions in genetic prion diseases is caused …
The central molecular event of prion diseases is the conformational conversion of the physiological cellular prion protein, PrP(C), into a d …
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.
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. Shi Q, et al. PLoS One. 2015 Oct 21;10(10):e0139552. doi: 10.1371/journal.pone.0139552. eCollection 2015. PLoS One. 2015. PMID: 26488179 Free PMC article.
OBJECTIVE: To identify the features of Chinese genetic prion diseases. METHODS: Suspected Creutzfeldt-Jakob disease (CJD) cases that were reported under CJD surveillance were diagnosed and subtyped using the diagnostic criteria issued by the WHO. ...Moreover, …
OBJECTIVE: To identify the features of Chinese genetic prion diseases. METHODS: Suspected Creutzfeldt-Jakob disease (CJ …
Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease.
Shi Q, Chen C, Xiao K, Zhou W, Gao LP, Chen DD, Wu YZ, Wang Y, Hu C, Gao C, Dong XP. Shi Q, et al. Neurosci Bull. 2021 Nov;37(11):1570-1582. doi: 10.1007/s12264-021-00764-y. Epub 2021 Sep 6. Neurosci Bull. 2021. PMID: 34487324 Free PMC article.
Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. ...
Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) …
ApoE distribution and family history in genetic prion diseases in Germany.
Krasnianski A, von Ahsen N, Heinemann U, Meissner B, Kretzschmar HA, Armstrong VW, Zerr I. Krasnianski A, et al. J Mol Neurosci. 2008;34(1):45-50. doi: 10.1007/s12031-007-9001-2. Epub 2007 Sep 11. J Mol Neurosci. 2008. PMID: 18157657
We analyzed the ApoE genotype in patients with genetic prion diseases (gPD) with respect to family history (FH) of dementia/prion disease (PD) compared to non-demented controls. ...
We analyzed the ApoE genotype in patients with genetic prion diseases (gPD) with respect to family history (FH) of deme …
17 results