Results 21 to 30 of about 11,518 (218)

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

The human spongiform encephalopathies [PDF]

Romanian Journal of Neurology, 2018
The human spongiform encephalopathies are a group of heterogenous, usually fatal diseases, characterized by a unique pathogenetic mechanism and distinct clinical presentation. They are classified into sporadic, familial and acquired forms.
Mavroudis Ioannis, Petrides Foivos, Kazis Dimitrios   +2 more
doaj   +1 more source

Sporadic Creutzfeldt–Jakob disease

Neurology, 2012
Sporadic Creutzfeldt-Jakob disease (sCJD) comprises approximately 85% of human prion diseases and is considered due to a post-translational modification of the native prion protein. Definitive diagnosis is only possible through neuropathologic examination at postmortem analysis or via an antemortem brain biopsy. Accurate and early clinical diagnosis of
Appleby, Brian S., Zerr, Inga
openaire   +4 more sources

Biomarkers for sporadic Creutzfeldt–Jakob disease [PDF]

Annals of Clinical and Translational Neurology, 2016
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare but fatal type of spongiform encephalopathy with unknown cause. Unfortunately, definitive diagnosis of this disease can only be done by examination of postmortem brain tissue. Presumptive diagnosis is done through a combination of clinical manifestations, radiology results, and cerebrospinal fluid ...
Soomro, Sanam, Mohan, Chandra
openaire   +2 more sources

Follow-up investigations of tau protein and S-100B levels in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease [PDF]

, 2005
Background: S-100B and tau protein have a high differential diagnostic potential for the diagnosis of Creutzfeldt-Jakob disease (CJD). So far there has been only limited information available about the dynamics of these parameters in the cerebrospinal ...
Barbara Ciesielczyk, Birgitt Wiese, Brit Mollenhauer, Green AJ, Hans A. Kretzschmar, Hulstaert F, Inga Zerr, Jens Wiltfang, Kretzschmar HA, Lukas Cepek, Markus Otto, Mirko Bibl, Otto M, Otto M, Petra Steinacker, Sigrid Poser, Steinhoff BJ, Walter Schulz-Schaeffer, Will RG   +18 more
core   +1 more source

Sporadic MM-1 Type Creutzfeldt-Jakob Disease With Hemiballic Presentation and No Cognitive Impairment Until Death: How New NCJDRSU Diagnostic Criteria May Allow Early Diagnosis

Frontiers in Neurology, 2018
Sporadic Creutzfeldt-Jakob disease is the most common human prion disorder. Although associated with heterogeneous clinical phenotypes, its distinctive feature is the presence of a rapidly progressive multidomain cognitive impairment.
Lorenzo Saraceno, Vito A. G. Ricigliano, Michele Cavalli, Alessandro Cagol, Giovanna Bosco, Fabio Moda, Paola Caroppo, Giovanni Meola, Giovanni Meola   +8 more
doaj   +1 more source

High diagnostic performance of plasma and cerebrospinal fluid beta‐synuclein for sporadic Creutzfeldt–Jakob disease

Annals of Clinical and Translational Neurology, 2023
Beta‐synuclein is a promising cerebrospinal fluid and blood biomarker of synaptic damage. Here we analysed its accuracy in the discrimination between sporadic Creutzfeldt–Jakob disease (n = 150) and non‐prion rapidly progressive dementias (n = 106).
Samir Abu‐Rumeileh, Steffen Halbgebauer, Giuseppe Mario Bentivenga, Lorenzo Barba, Simone Baiardi, Andrea Mastrangelo, Patrick Oeckl, Petra Steinacker, Angela Mammana, Sabina Capellari, Markus Otto, Piero Parchi   +11 more
doaj   +1 more source

Proteomic analysis of the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease [PDF]

, 2007
So far, only the detection of 14-3-3 proteins in cerebrospinal fluid (CSF) has been accepted as diagnostic criterion for Creutzfeldt-Jakob disease (CJD). However, this assay cannot be used for screening because of the high rate of false-positive results,
Brit Mollenhauer, Enrico Klingebiel, Hans A. Kretzschmar, Harrington MG, Harrington MG, Jens Wiltfang, Jiang L, Kretzschmar HA, Lukas Cepek, Markus Otto, McKhann G, Mirko Bibl, Otto M, Peter Brechlin, Petra Steinacker, Rabilloud T, Steinhoff BJ, Will RG, Zerr I, Zheng PP   +19 more
core   +1 more source

Autoantibodies in Sporadic Creutzfeldt-Jakob Disease [PDF]

JAMA Neurology, 2013
The diagnosis of autoimmune and neurodegenerative conditions can be unclear. Treatments such as removing the associated tumor, if present, and immunosuppression can halt or often reverse the progression of autoimmune conditions, but there is no curative treatment for neurodegenerative conditions.
Angus-Leppan, H, Rudge, P, Mead, S, Collinge, J, Vincent, A   +4 more
openaire   +2 more sources

Cross infection control measures and the treatment of patients at risk of Creutzfeldt Jakob disease in UK general dental practice [PDF]

, 2001
AIMS: To determine the suitability of key infection control measures currently employed in UK dental practice for delivery of dental care to patients at risk of prion diseases.
A Smith, AF Hill, AF Hill, C P Sweeney, CM Van Duijn, DH Adams, DM Taylor, F Blanquet-Gossard, H Ashraf, IF Laurenson, J Bagg, K Arakawa, K M Roy, L Ingrosso, ME Bruce, R Dobson, RG Will, RG Will, RI Carp, RT Johnson, S Collins, T Sharp, Z Davanipour   +22 more
core   +1 more source