Results 61 to 70 of about 29,744 (185)

Movement Disorders in Prionopathies: A Systematic Review

Tremor and Other Hyperkinetic Movements, 2019
Background: Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described. Methods: We performed a systematic review of case reports and case series of pathologically- and genetically confirmed ...
Federico Rodriguez-Porcel, Vinícius Boaratti Ciarlariello, Alok K. Dwivedi, Lilia Lovera, Gustavo Da Prat, Ricardo Lopez-Castellanos, Ritika Suri, Holly Laub, Ruth H. Walker, Orlando Barsottini, José Luiz Pedroso, Alberto J. Espay   +11 more
doaj   +1 more source

Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification [PDF]

, 2018
A patient with a heterozygous variant of Creutzfeldt-Jakob disease (CJD) with a methionine/valine genotype at codon 129 of the prion protein gene was recently reported.
Bougard, Daisy, Bruyère-Ostells, Lilian, Bélondrade, Maxime, Fournier-Wirth, Chantal, Green, Alison J E, Knight, Richard S, Lehmann, Sylvain, Mayran, Charly, Will, Robert G   +8 more
core   +3 more sources

Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice

Brain Pathology, EarlyView.
We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga, Eva Fernández‐Muñoz, Jorge M. Charco, Enric Vidal, Diego Herrero‐Martínez, Josu Galarza‐Ahumada, Cristina Sampedro‐Torres‐Quevedo, Samanta Giler, Mariví Geijo, Gloria González‐Aseguinolaza, Hasier Eraña, Joaquín Castilla   +11 more
wiley   +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

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

Brain Pathology, EarlyView.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña, Enric Vidal, Natalia Fernández‐Borges, Jorge M. Charco, Carlos M. Díaz‐Domínguez, Cristina Sampedro‐Torres‐Quevedo, Josu Galarza‐Ahumada, Eva Fernández‐Muñoz, Maitena San‐Juan‐Ansoleaga, Miguel Ángel Pérez‐Castro, Nuno Gonçalves‐Anjo, Patricia Piñeiro, Samanta Giler, Nora González‐Martín, Nuria L. Lorenzo, Africa Manero‐Azua, Guiomar Perez de Nanclares, Mariví Geijo, Manuel A. Sánchez‐Martín, Jesús R. Requena, Joaquín Castilla   +20 more
wiley   +1 more source

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, EarlyView.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

Molecular Dynamics Studies on the Buffalo Prion Protein [PDF]

, 2015
It was reported that buffalo is a low susceptibility species resisting to prion diseases, which are invariably fatal and highly infectious neurodegenerative diseases that affect a wide variety of species.
Chatterjee, Subhojyoti, Wang, Feng, Zhang, Jiapu   +2 more
core   +3 more sources

Motives and barriers to blood donation among adults aged over 50 years: A qualitative analysis

Transfusion Medicine, EarlyView.
Abstract Background Ageing populations will increase demand for blood‐products and donors who supply them. While blood collection agencies (BCAs) typically target younger people to expand supply, recruiting donors aged 50+ is also a potential solution. However, few studies focus exclusively on this group.
Melissa K. Hyde, Barbara M. Masser, Rachel Thorpe, Aaron Akpu Philip, Amanda Salmon, Theresa L. Scott, Tanya E. Davison   +6 more
wiley   +1 more source

Clinical perspectives of emerging pathogens in bleeding disorders. [PDF]

, 2006
As a result of immunological and nucleic-acid screening of plasma donations for transfusion-transmissible viruses, and the incorporation of viral reduction processes during plasma fractionation, coagulation-factor concentrates (CFC) are now judged safe ...
Bozzette, Samuel, Diamond, Michael, Koerper, Marion A, Kulkarni, Roshni, Ludlam, Christopher A, Powderly, William G, Ritchie, Bruce, Siegel, Jamie, Simmonds, Peter, Stanley, Samuel, Tapper, Michael L, von Depka, Mario   +11 more
core   +1 more source

PRNP P39L variant is a rare cause of frontotemporal dementia in Iialian population [PDF]

, 2016
The missense P39L variant in the prion protein gene (PRNP) has recently been associated with frontotemporal dementia (FTD). Here, we analyzed the presence of the P39L variant in 761 patients with FTD and 719 controls and found a single carrier among ...
Arcaro, Marina, Arighi, Andrea, Arosio, Beatrice, Benussi, Luisa, Binetti, Giuliano, Bruno, Giuseppe, Bursey, Devan, Cioffi, Sara Mg, Confaloni, Annamaria, Fenoglio, Chiara, Fumagalli, Giorgio G, Galimberti, Daniela, Ghidoni, Roberta, Grande, Giulia, Kauwe, John S, Mari, Daniela, Mariani, Claudio, Nacmias, Benedetta, Oldoni, Emanuela, Pinessi, Lorenzo, Piscopo, Paola, Rainero, Innocenzo, Rubino, Elisa, Scarioni, Marta, Scarpini, Elio, Serpente, Maria, Sorbi, Sandro, Talarico, Giuseppina   +27 more
core   +2 more sources