Results 1 to 10 of about 12,920 (98)

Creutzfeldt–Jakob disease: A case report [PDF]

Radiology Case Reports
Creutzfeldt–Jakob Disease (CJD) is a rare, fatal neurodegenerative disorder that is caused by prion proteins. Patients often present with rapidly progressive dementia, ataxia, myoclonus, memory impairment, visual problems, and changes in personality.
Fahad Rasool Butt, HBSc, Thanansayan Dhivagaran, HBSc, Syed Naqvi, MD, FRCPC, DABR   +2 more
doaj   +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

Developing neuropalliative care for sporadic Creutzfeldt-Jakob Disease

Prion, 2022
We aimed to identify targets for neuropalliative care interventions in sporadic Creutzfeldt-Jakob disease by examining characteristics of patients and sources of distress and support among former caregivers.
Krista L. Harrison, Sarah B. Garrett, Joni Gilissen, Michael J. Terranova, Alissa Bernstein Sideman, Christine S. Ritchie, Michael D. Geschwind   +6 more
doaj   +1 more source

Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease

Acta Neuropathologica Communications, 2020
Mitochondrial dysfunction has been implicated in multiple neurodegenerative diseases but remains largely unexplored in Creutzfeldt-Jakob disease. Here, we characterize the mitochondrial respiratory chain at the individual neuron level in the MM1 and VV2 ...
Irene H. Flønes, Gerda Ricken, Sigrid Klotz, Alexandra Lang, Thomas Ströbel, Christian Dölle, Gabor G. Kovacs, Charalampos Tzoulis   +7 more
doaj   +1 more source

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

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

Creutzfeldt-Jakob Disease Mimicking Wernicke Encephalopathy [PDF]

Journal of Neurocritical Care, 2015
Background: Creutzfeldt-Jakob disease (CJD) is the prototype of a family of rare and fatal human degenerative conditions characterized by rapidly progressive dementia, myoclonus and akinetic mutism.
Min Suck Kim, Sung Je Kim, Youngrok Do
doaj   +1 more source

Interventions to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease: a cost-effective modelling review

Health Technology Assessment, 2020
Background: Creutzfeldt–Jakob disease is a fatal neurological disease caused by abnormal infectious proteins called prions. Prions that are present on surgical instruments cannot be completely deactivated; therefore, patients who are subsequently ...
Matt Stevenson, Lesley Uttley, Jeremy E Oakley, Christopher Carroll, Stephen E Chick, Ruth Wong   +5 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

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