Results 21 to 30 of about 5,104,410 (171)

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   +8 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

Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease [PDF]

, 2021
Sporadic Creutzfeldt-Jakob disease is a fatal neurodegenerative disease caused by misfolded prion proteins (PrPSc). Effective therapeutics are currently not available and accurate diagnosis can be challenging.
Kovacs G. G., Appleby B., Pal S., Collins S., Hermann P., Brandel J. -P., Geschwind M. D., Parchi P., Caughey B., Llorens F., Nishida N., Satoh K., Ladogana A., Pocchiari M., Zanusso G., Mead S., Green A., Haik S., Zerr I.   +18 more
core   +5 more sources

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

Sporadic Creutzfeldt-Jakob disease with cerebellar ataxia at onset in the UK [PDF]

, 2006
To determine the frequency, in the UK, of sporadic Creutzfeldt-Jakob Disease (sCJD) with a cerebellar ataxic onset, and to describe the clinical features of the ...
Will, R G, Heath, C A, Cooper, S A, Knight, R S G, Murray, K L   +4 more
core   +1 more source

Validation of the 2017 International Creutzfeldt-Jakob Disease Surveillance Network diagnostic criteria for sporadic Creutzfeldt-Jakob disease [PDF]

, 2023
Sporadic Creutzfeldt-Jakob disease (sCJD) is the commonest human prion disease. sCJD is rapidly-progressive, universally fatal and transmissible.
Watson, Neil Robert John
core   +1 more source

Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification [PDF]

, 2009
Six subtypes of sporadic Creutzfeldt-Jakob disease with distinctive clinico-pathological features have been identified largely based on two types of the abnormal prion protein, PrPSc, and the methionine (M)/valine (V) polymorphic codon 129 of the prion ...
Maurizio Pocchiari, Roncaroli F, Cras, Patrick, Patrich Cras, Anna Ladogana, Giese, Armin, Cras, Patrich, Pocchiari M, Ladogana, Anna, Federico Roncaroli, Ladogana A, Bernardino Ghetti, Jan P. M. Langeveld, Strammiello, R., Zerr, I., Ghetti, B., Ghetti B, Roncaroli, Federico, Pocchiari, Maurizio, Langeveld, Jan P.M., Inga Zerr, Cras, P., Notari, Silvio, Cras P, Giese, A., Roncaroli, F., Parchi, Piero, Notari, S., Kretzschmar H, Langeveld JP, Rosaria Strammiello, Ghetti, Bernardino, Zerr, Inga, Kretzschmar, Hans A., Armin Giese, Parchi, P., Capellari, S., Hans Kretzschmar, Notari S, Pocchiari, M., Kretzschmar, Hans, Ladogana, A., Giese A, Langeveld, J.P.M., Capellari, Sabina, Strammiello, Rosaria, Piero Parchi, Silvio Notari, Zerr I, Langeveld, Jan P. M., Kretzschmar, H., Sabina Capellari   +51 more
core   +1 more source