Results 11 to 20 of about 5,281 (133)

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

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 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

Interlaboratory validation of cerebrospinal fluid α‐synuclein quantification in the diagnosis of sporadic Creutzfeldt‐Jakob disease

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction Cerebrospinal fluid α‐synuclein level is increased in sporadic Creutzfeldt‐Jakob disease cases. However, the clinical value of this biomarker remains to be established.
Niels Kruse, Amanda Heslegrave, Vandana Gupta, Martha Foiani, Anna Villar‐Piqué, Matthias Schmitz, Sylvain Lehmann, Charlotte Teunissen, Kaj Blennow, Henrik Zetterberg, Brit Mollenhauer, Inga Zerr, Franc Llorens   +12 more
doaj   +1 more source

Creutzfeldt–Jakob disease: A case report and differential diagnoses

Clinical Case Reports, 2022
Although sporadic Creutzfeldt–Jakob disease is a rare neurodegenerative disease and often difficult to diagnose at the earliest onset, meticulous clinical examination, electroencephalography, and neuroimaging findings will help in diagnosis.
Akash Raut, Anjila Thapa, Ashish Shrestha, Kamal Saud, Reema Rajbhandari, Shailendra Katwal   +5 more
doaj   +1 more source

Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD

Annals of Clinical and Translational Neurology, 2020
Objective Real‐time quaking‐induced conversion (RT‐QuIC) assays detect prion‐seeding activity in a variety of human biospecimens, including cerebrospinal fluid and olfactory mucosa swabs.
Christina D. Orrú, Bradley R. Groveman, Aaron Foutz, Matilde Bongianni, Franco Cardone, Neil McKenzie, Audrey Culeux, Anna Poleggi, Katarina Grznarova, Daniela Perra, Michele Fiorini, Xiaoqin Liu, Anna Ladogana, Marco Sbriccoli, Andrew G. Hughson, Stéphane Haïk, Alison J. Green, Michael D. Geschwind, Maurizio Pocchiari, Jiri G. Safar, Gianluigi Zanusso, Byron Caughey   +21 more
doaj   +1 more source

Public health concerns regarding sporadic Creutzfeldt–Jakob disease in China: a case series

Journal of International Medical Research, 2019
In this study, we report three cases of sporadic Creutzfeldt–Jakob disease in China, two confirmed cases and one probable case. The aim of this study was to enrich the data regarding clinical and epidemiological features of this disease and to provide ...
Ru-Yi Zhou, Yinzhu Zhou, Heng Zhang, Qingqing Hu, Jinjie Zhu, Jin Zhao, Shuilian Chen, Ruchun Liu, Weihong Hu, Xixing Zhang, Xianfa Xuan, Yuxue Liao, Tianmu Chen   +12 more
doaj   +1 more source

Detection of Infectivity in Blood of Persons with Variant and Sporadic Creutzfeldt-Jakob Disease

Emerging Infectious Diseases, 2014
We report the presence of infectivity in erythrocytes, leukocytes, and plasma of 1 person with variant Creutzfeldt-Jakob disease and in the plasma of 2 in 4 persons whose tests were positive for sporadic Creutzfeldt-Jakob disease.
Jean Yves Douet, Saima Zafar, Armand Perret-Liaudet, Caroline Lacroux, Séverine Lugan, Naima Aron, Herve Cassard, Claudia Ponto, Fabien Corbière, Juan Maria Torres, Inga Zerr, Olivier Andreoletti   +11 more
doaj   +1 more source