Results 21 to 30 of about 22,988 (222)

The First Sporadic Creutzfeldt–Jakob Disease Case with a Rare Molecular Subtype VV1 and 1-Octapeptide Repeat Deletion in PRNP

Viruses, 2021
In the present manuscript, we report the clinical presentation and challenging diagnostic work-up of a sporadic Creutzfeldt–Jakob disease patient with confirmed VV1 subtype and heterozygous 1-octapeptide repeat deletion in the prion protein gene.
Aušrinė Areškevičiūtė, Eva Løbner Lund, Sabina Capellari, Piero Parchi, Christian Tersbøl Pinkowsky   +4 more
doaj   +1 more source

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion

Viruses, 2021
Genetic prion disease accounts for 10–15% of prion disease. While insertion of four or more octapeptide repeats are clearly pathogenic, smaller repeat insertions have an unclear pathogenicity.
Nicholas Brennecke, Ignazio Cali, Tze How Mok, Helen Speedy, Genomics England Research Consortium, Laszlo L. P. Hosszu, Christiane Stehmann, Laura Cracco, Gianfranco Puoti, Thomas W. Prior, Mark L. Cohen, Steven J. Collins, Simon Mead, Brian S. Appleby   +13 more
doaj   +1 more source

Creutzfeldt–Jakob disease [PDF]

Psychogeriatrics, 2011
AbstractCreutzfeldt–Jakob disease (CJD) is a progressive, degenerative, and fatal disease of the central nervous system. It is caused by abnormal accumulation of prion proteins and is characterized mainly by progressive dementia, myoclonus, and cerebellar, pyramidal, and extrapyramidal findings. Psychiatric symptoms may also accompany CJD and are often
Ali Görkem, Gençer, Zerrin, Pelin, Cem İsmail, Küçükali, Ozgür Bilgin, Topçuoğlu, Nuriye, Yilmaz   +4 more
openaire   +2 more sources

Creutzfeldt-Jakob disease. [PDF]

BMJ, 1978
Summary The laboratory transmission to animals of an apparently degenerative disease of the nervous system, Creutzfeldt-Jakob disease (CJD), is now well established. Important questions arising from this observation are the possibility of natural transmission or infectivity and the existence of other similarly transmissible diseases ...
openaire   +4 more sources

Source of variant Creutzfeldt-Jakob disease outside United Kingdom. [PDF]

, 2007
We studied the occurrence of variant Creutzfeldt-Jakob disease (vCJD) outside the United Kingdom in relation to the incidence of indigenous bovine spongiform encephalopathy (BSE) and to the level of live bovines and bovine products imported from the UK ...
Cousens, Simon N, Cornelia M. van Duijn, Sanchez-Juan, Pascual, Pascual Sanchez-Juan, Will, Robert G, van Duijn, Cornelia M, Robert G. Will, Pascual Sanchez-Juan, Simon N. Cousens   +8 more
core   +1 more source

Variant Creutzfeldt–Jakob disease [PDF]

Haemophilia, 2003
Summary.  Variant Creutzfeldt–Jakob disease (CJD) is an emerging form of human prion disease caused by oral exposure to the bovine spongiform encephalopathy agent. Most cases have occurred in the UK, but smaller numbers of cases have been identified in 10 other countries worldwide.
H J T, Ward, M W, Head, R G, Will, J W, Ironside   +3 more
openaire   +5 more sources

Creutzfeldt-Jakob Disease Mimicking Wernicke Encephalopathy [PDF]

Journal of Neurocritical Care, 2015
Background: Creutzfeldt-Jakob disease (CJD) is the prototype of a family of rare and fatal human degenerative conditions characterized by rapidly progressive dementia, myoclonus and akinetic mutism.
Min Suck Kim, Sung Je Kim, Youngrok Do
doaj   +1 more source

Beyond PrP res type 1/type 2 dichotomy in Creutzfeldt-Jakob disease [PDF]

, 2008
Sporadic Creutzfeldt-Jakob disease (sCJD) cases are currently subclassified according to the methionine/valine polymorphism at codon 129 of the PRNP gene and the proteinase K (PK) digested abnormal prion protein (PrPres)identified on Western blotting ...
Ironside, James W, Uro-Coste, Emmanuelle, Grassi, J., Head, Mark, Jean-Marc Bilheude, Lacroux, Caroline, Cassard Hervé, Armand Perret-Liaudet, Marie Bernadette Delisle, Grassi, Jacques, Head, M.W., Hauw, J.J., Head Mark W., Andréoletti Olivier, Bilheude, Jean-Marc, Peoch, Katell, Delisle, Marie-Bernadette, Streichenberger, Nathalie, Ironside, J.E., Simon Stéphanie, Lacroux Caroline, Simon, S., Haik, S., Peoch' Katell, Hervé Cassard, Jean-Jacques Hauw, Haik Stéphane, Basset-Leobon Christelle, Bilheude, J.M., Andreoletti, O., Jan Langeveld, Bilheude Jean-Marc, Stéphanie Simon, Uro-Coste Emmanuelle, Schelcher, F., Ironside, James, W., Langeveld, Jan, Christelle Basset-Leobon, Jacques Grassi, Olivier Andréoletti, Lugan, Séverine, Andréoletti, Olivier, Emmanuelle Uro-Coste, Lugan, S., Caroline Lacroux, Ironside, James, Hauw, Jean-Jacques, Perret-Liaudet, Armand, Basset-Leobon, Christelle, Basset-Leobon, C., Cassard, Hervé, Stéphane Haik, Head, Mark, W., Hauw Jean-Jacques, Langeveld Jan, James W Ironside, Simon, Stéphanie, Peoch, K., Séverine Lugan, Streichenberger Nathalie, Langeveld, J.P.M., Perret-Liaudet, A., Streichenberger, N., Cassard, H., Delisle, M.B., Uro-Coste, E., Haik, Stéphane, Schelcher, Francois, Grassi Jacques, Peoc’h, Katell, Mark W Head, Delisle, Marie Bernadette, Lacroux, C., Lugan Séverine, Schelcher Francois, Delisle Marie Bernadette, Head, Mark W, Ironside James W., Nathalie Streichenberger, Francois Schelcher, Katell Peoch', Perret-Liaudet Armand, Peoch', Katell   +82 more
core   +1 more source

CSF lactate dehydrogenase activity in patients with Creutzfeldt-Jakob disease exceeds that in other dementias [PDF]

, 2004
The diagnosis of Creutzfeldt- Jakob disease (CJD) is still made by exclusion of other dementias. We now evaluated lactate dehydrogenase (LDH) in the cerebrospinal fluid (CSF) as a possible additional diagnostic tool. CSF LDH levels of patients with CJD (
Cepek, L., Niedmann, P., Poser, S., Otto, M., Kretzschmar, Hans A., Otto, Markus, Poser, Sigrid, Schmidt, H., Schroter, A., Kretzschmar, H. A.   +9 more
core   +1 more source

Interventions to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease: a cost-effective modelling review

Health Technology Assessment, 2020
Background: Creutzfeldt–Jakob disease is a fatal neurological disease caused by abnormal infectious proteins called prions. Prions that are present on surgical instruments cannot be completely deactivated; therefore, patients who are subsequently ...
Matt Stevenson, Lesley Uttley, Jeremy E Oakley, Christopher Carroll, Stephen E Chick, Ruth Wong   +5 more
doaj   +1 more source