Results 11 to 20 of about 11,396 (179)

The Phenotypic Spectrum of Sporadic Creutzfeldt-Jakob Disease Cortical Subtype. [PDF]

Ann Neurol
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Baiardi S, Vargiu CM, Appleby BS, Barria M, Bentivenga GM, Calì I, Carlà B, Cohen M, Giese A, Herms J, Kortelainen AM, Ladogana A, Mammana A, Ritchie D, Windl O, Capellari S, Parchi P.   +16 more
europepmc   +2 more sources

Subtype and Regional-Specific Neuroinflammation in Sporadic Creutzfeldt–Jakob Disease [PDF]

Frontiers in Aging Neuroscience, 2014
The present study identifies deregulated cytokines and mediators of the immune response in the frontal cortex and cerebellum of sporadic Creutzfeldt-Jakob disease (sCJD) MM1 and VV2 subtypes compared to age-matched controls. Deregulated genes include pro- and anti-inflammatory cytokines, toll-like receptors, colony stimulating factors, cathepsins ...
Llorens, Franc, López-González, Irene, Thüne, Katrin, Carmona, Margarita, Zafar, Saima, Andréoletti, Olivier, Zerr, Inga, Ferrer, Isidre   +7 more
openaire   +7 more sources

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

Diagnostic approach in a patient with Creutzfeldt-Jakob disease [PDF]

Dementia & Neuropsychologia, 2022
Prion diseases are an important cause of rapidly progressive dementias. Among them, the most common is sporadic Creutzfeldt-Jakob disease (CJD). It is a rare and incurable disease, with rapid progression to death.
José Wagner Leonel Tavares-Júnior, Renata de Oliveira Carvalho, Raul Raposo Pereira Feitosa, Flávia de Paiva Santos Rolim, Felipe Araújo Rocha, Milena Sales Pitombeira, George Linard Silva Malveira, João José Freitas de Carvalho, Norberto Anizio Ferreira Frota, Daniel Aguiar Dias   +9 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

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

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

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., Kretzschmar, H. A., Niedmann, P., Otto, M., Poser, S., Schmidt, H., Schroter, A.   +6 more
core   +1 more source

Genome-wide association study of behavioural and psychiatric features in human prion disease. [PDF]

, 2015
Prion diseases are rare neurodegenerative conditions causing highly variable clinical syndromes, which often include prominent neuropsychiatric symptoms.
Carswell, C, Collinge, J, Lowe, J, Lukic, A, MacKay, A, Mead, S, Porter, MC, Rudge, P, Thompson, AG, Uphill, J   +9 more
core   +1 more source

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