Results 1 to 10 of about 5,500 (132)

Understanding the Phenotypic Heterogeneity Within the Sporadic Creutzfeldt-Jakob Disease MV1 Subtype. [PDF]

Neuropathol Appl Neurobiol
We present the clinical, pathological and prion biophysical features of three atypical cases of the MV1 subtype of sporadic Creutzfeldt–Jakob disease (sCJD). We propose that these heterozygous cases exist on a spectrum ranging from MM1‐like to VV1‐like phenotypes and recommend that subtyping be performed at pH 6.9 to avoid missing atypical or mixed ...
Nemani SK, Cortez LM, Myskiw J, Cali I, Booth SA, Jansen GH, Sim VL.   +6 more
europepmc   +2 more sources

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

Specific early electroencephalogram for the diagnosis of sporadic Creutzfeldt-Jakob disease. [PDF]

Prion
An early diagnosis is required for intervention in prion disease cases. To elucidate the specificity of early electroencephalography discharges in cases of sporadic Creutzfeldt-Jakob disease, we analysed epileptiform discharges through ...
Matsubayashi T, Natsui H, Satoh K, Kitamoto T, Yokota T, Sanjo N.   +5 more
europepmc   +2 more sources

Sporadic Creutzfeldt-Jakob disease in Palestine with early ataxia and dysarthria: a case report. [PDF]

BMC Neurol
Creutzfeldt–Jakob disease (CJD) is a rare and fatal neurodegenerative disorder caused by misfolded prion proteins. It progresses inexorably to death once clinical symptoms emerge.
Bahbah AS, Kurdi EO, Mosameh DM, Sharawi BMM, Damrah M.   +4 more
europepmc   +2 more sources

Progressive multifocal diffusion-weighted imaging hyperintensities in sporadic Creutzfeldt-Jakob disease with positive cerebrospinal fluid real-time quaking-induced conversion: a case report. [PDF]

J Med Case Rep
Background Creutzfeldt–Jakob disease is a rare and invariably fatal neurodegenerative disorder classified among the prion diseases. Primarily affecting the brain, this condition precipitates neuronal cell demise, culminating in swiftly advancing dementia
Li P, Wang W, Li L, Cheng K, Wang Y, Li Y, Xu W.   +6 more
europepmc   +2 more sources

Atypical Presentation of Sporadic Creutzfeldt–Jakob Disease in a 59-Year-Old Male Patient [PDF]

BJPsych Open
Aims: Creutzfeldt–Jakob Disease (CJD) is a rare, fatal neurodegenerative disorder caused by prion proteins, leading to progressive brain damage. CJD has sporadic, variant, genetic, and iatrogenic forms, with sporadic being the most common, affecting 1–2 ...
Jaufer R.
europepmc   +2 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

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

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

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