Results 21 to 30 of about 5,376 (165)

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

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

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

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
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A novel phenotype of sporadic Creutzfeldt–Jakob disease [PDF]

BMJ Case Reports, 2007
An atypical case of sporadic Creutzfeldt–Jakob disease (CJD) is described in a 78-year-old woman homozygous for methionine at codon 129 of the prion protein (PrP) gene. The neuropathological signature was the presence of PrP immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus.
G, Giaccone, G, Di Fede, M, Mangieri, L, Limido, R, Capobianco, S, Suardi, M, Grisoli, S, Binelli, P, Fociani, O, Bugiani, F, Tagliavini   +10 more
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Classification of sporadic Creutzfeldt-Jakob disease revisited [PDF]

Brain, 2006
The sporadic form of Creutzfeldt-Jakob disease (sCJD) has been classified on the basis of the molecular mass of the protease-resistant scrapie prion protein (PrP(Sc)), which can be type 1 or type 2, and the genotype at the methionine (M)/valine (V) polymorphic codon 129, which can be MM, MV or VV.
Cali I., Castellani R., Yuan J., Al Shekhlee A., Cohen M. L., Xiao X., Moleres F. J., PARCHI, PIERO, Zou W. Q., Gambetti P.   +9 more
openaire   +2 more sources

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

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

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

An unusual presentation of sporadic Creutzfeldt-Jakob disease [PDF]

Age and Ageing, 2020
Abstract Sporadic Creutzfeld-Jakob disease (CJD) is a rare neurodegenerative disorder. It is uniformly fatal. Clinical signs include myoclonus, visual disturbances, cerebellar ataxia, akinetic mutism and pyramidal/extrapyramidal signs in addition to a rapidly progressive dementia.
Hannah, Podger, Anil, Ipe
openaire   +2 more sources