Results 71 to 80 of about 26,898 (212)

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

Creutzfeldt-Jakob Disease with Mixed Transcortical Aphasia: Insights into Echolalia

Behavioural Neurology, 1994
Aphasia is a common manifestation of Creutzfeldt-Jakob disease (CJD), and investigation of the linguistic disorders of CJD patients may provide insights into the neurobiological mechanisms of language and aphasia.
S. E. McPherson, J. D. Kuratani, J. L. Cummings, J. Shih, P. S. Mischel, H. V. Vinters   +5 more
doaj   +1 more source

Case Report: A Case of Creutzfeldt–Jakob Heidenhain Variant Simulating PRES

Diagnostics, 2022
The Heidenhain Variant of Creutzfeldt–Jakob disease (CJD) is an uncommon early clinical syndrome of the otherwise regular sporadic CJD, which belongs to the group of prion diseases caused by a transmissible agent, the misfolded form of the prion protein.
Annibale Antonioni, Emanuela Maria Raho, Andrea Gozzi, Niccolò Cotta Ramusino, Edward Cesnik, Marina Padroni, Alessandro De Vito, Maura Pugliatti, Valeria Tugnoli   +8 more
doaj   +1 more source

Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding [PDF]

, 2010
Transmissible spongiform encephalopathies, or prion diseases, are caused by misfolding and aggregation of the prion protein PrP. These diseases can be hereditary in humans and four of the many disease-associated missense mutants of PrP are in the ...
Daggett, Valerie, van der Kamp, Marc W
core   +2 more sources

Clinical application and reporting of neurofilament quantification in neuropsychiatric disorders: an international overview

Alzheimer's &Dementia, Volume 21, Issue S2, December 2025.
Abstract Background The quantification of Neurofilament Light chain (NfL) in blood and cerebrospinal fluid (CSF) has proven valuable for diagnosing and prognosing various neurological disorders, including Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, parkinsonism, multiple sclerosis, and ischemic damage. However, there is
Constance Delaby, Aurélie Ladang, Jose Yriarte, Chiara Zecca, Giancarlo Logroscino, Peter Koertvelyessy, Hayrettin Tumani, Piero Parchi, Isabelle Quadrio, Melanie Hart, Dorte Aalund Olsen, Daniel Alcolea, Kaj Blennow, Juan Fortea, Alberto Lleó, Alicia Algeciras‐Schimnich, Xavier Ayrignac, Aurélie Bedel, Gustavo A A Santos, Wyllians Vendramini Borelli, Elodie Bouaziz Amar, Inês Baldeiras, Edith Bigot‐Corbel, Maria Bjerke, Mercedes Carretero Perez, Tiziana Casoli, Tinatin Chabrashvili, Miles D Chapman, Jessica Cusato, Erdinc Dursun, Anthony Fourier, Daniela Galimberti, Duygu Gezen‐Ak, Brian A. Gordon, Julien Gouju, Silvia de las Heras Florez, Juan José Hernández Sánchez, Marina Herwerth, Daniela Imperiale, Flora Kaczorowski, Kensaku Kasuga, Ashvini Keshavan, Michael Khalil, Jens Kuhle, Christoph Leithner, Piotr Lewczuk, Franck Letournel, Magda Tsolaki, Guido Maria Giuffrè, Marie‐Céline Blanc, Barbara Mroszko, Jose Rodríguez‐Álvarez, Giulia Musso, Agnieszka Kulczynska‐Przybik, Léonor Nogueira, Claire Paquet, Simone Baiardi, Lorenzo Gaetani, Lucilla Parnetti, Raquel Perez Garay, Koen Poesen, Muriel Quillard‐Muraine, Enrique Rodriguez Borja, Susanna Schraen‐Maschke, Daniela Terracciano, Franziska Bachhuber, Steffen Halbgebauer, Socrates Tzartos, John Tzartos, Nadine Unterwalder, Lisa Vermunt, Cheryl L Wellington, Henrik Zetterberg, Charlotte E. Teunissen, Sylvain Lehmann   +74 more
wiley   +1 more source

Enfermedad de Creutzfeldt-Jakob en un paciente con infartos cerebrales múltiples

Revista Cubana de Medicina, 1999
Se presentó el caso de un paciente con enfermedad de Creutzfeldt-Jakob, con antecedentes de enfermedad cerebrovascular isquémica previa y un cuadro típico de demencia, ataxia, mioclonías y cambios típicos en el electroencefalograma con imagenología ...
Edmundo Rivero Arias, María Teresa Cuesta Mejías, René Zamora Marín, Leopoldo José Araujo Pradere   +3 more
doaj  

Case Report: Paraneoplastic Hashimoto's Encephalopathy Associated With Lymphomatosis Cerebri With Periodic Synchronous Discharges Resembling Creutzfeldt–Jakob Disease

Frontiers in Neurology, 2021
Hashimoto's encephalopathy (HE) is an autoimmune encephalopathy that presents with various clinical symptoms, including cognitive deterioration, convulsive seizures, and personality changes.
Ryota Amano, Setsuro Tsukada, Shota Kosuge, Satoshi Yano, Kenjiro Ono, Makoto Yoneda, Katsumi Taki   +6 more
doaj   +1 more source

Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt-Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years [PDF]

, 2017
To date, cerebrospinal fluid analysis, particularly protein 14-3-3 testing, presents an important approach in the identification of Creutzfeldt-Jakob disease cases.
Aguzzi, Adriano, Calero, Miguel, Gawinecka, Joanna, Green, Alison, Karch, Andre, Knight, Richard, Kulczycki, Jerzy, Ladogana, Anna, Laplanche, Jean-Louis, Mitrova, Eva, Peoc'h, Katell, Pocchiari, Maurizio, Saiz, Albert, Sanchez-Juan, Pascual, Sanchez-Valle, Raquel, Schelzke, Gabi, Sklaviadis, Theodor, Slivarichova, Dana, Stoeck, Katharina, van Duijn, Cornelia M., Zerr, Inga   +20 more
core  

Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

Journal of Medical Case Reports, 2008
Introduction Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal ...
Ye Jing, Han Jun, Shi Qi, Zhang Bao-Yun, Wang Gui-Rong, Tian Chan, Gao Chen, Chen Jian-Min, Li Cun-Jiang, Liu Zheng, Li Xian-Zhang, Zhang Lai-Zhong, Dong Xiao-Ping   +12 more
doaj   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source