Results 41 to 50 of about 16,364 (197)

A presumptive association between obsessive compulsions and asymmetric temporal lobe atrophy: a case report

Journal of Medical Case Reports, 2022
Background The relatively isolated atrophy of the temporal lobes leads to a clinical radiological pattern, referred to as the temporal variant of frontotemporal dementia.
Thiago Paranhos, Tiago Lucas, Antonio de Salles, Jorge Moll, Ricardo de Oliveira-Souza   +4 more
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Alzheimer's Disease Co‐Pathology and Cognitive Impairment in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objectives Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) share neuropathological features, including tau, amyloid, and TDP‐43 pathology. This study investigated whether AD‐related pathological changes are associated with cognitive impairment ALS. Methods Cerebrospinal fluid (CSF total‐tau, phosphorylated‐tau, beta‐amyloid) and plasma
Elisabeth Kasper, Annaliis Lehto, Alexandra Jürs, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Voigt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Annett Halle, Jochen Herms, Anja Schneider, Stefan Teipel, Johannes Prudlo, Manuela Neumann, Andreas Hermann   +29 more
wiley   +1 more source

Case Report: Barely Able to Speak, Can’t Stop Echoing: Echolalic Dynamic Aphasia in Progressive Supranuclear Palsy

Frontiers in Aging Neuroscience, 2021
The diagnostic criteria for progressive supranuclear palsy (PSP) incorporate two speech-language disturbances (SLDs), non-fluent/agrammatic primary progressive aphasia and progressive apraxia of speech, but overlook the inclusion of other SLDs, including
Marcelo L. Berthier, Marcelo L. Berthier, Marcelo L. Berthier, Florencia Hoet, Florencia Hoet, Florencia Hoet, Álvaro Beltrán-Corbellini, Daniel Santana-Moreno, Lisa Edelkraut, Lisa Edelkraut, Lisa Edelkraut, Lisa Edelkraut, Guadalupe Dávila, Guadalupe Dávila, Guadalupe Dávila, Guadalupe Dávila   +15 more
doaj   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Efficacy, safety and cost‐effectiveness of CAR‐T therapy

British Journal of Clinical Pharmacology, EarlyView.
CAR T‐cells demonstrate high efficacy in blood cancers, including ALL, MM and DLBCL. Innovations target solid tumours despite challenges such as antigen escape. Combination therapies enhance the delivery and infiltration of CAR T cells. Toxicity, cost and resistance remain major barriers to clinical use.
Emina Karahmet Sher, Amina Džidić‐Krivić, Emma Pinjic, Nejra Selak, Kanita Omerbasic, Alexandar Chupin, Andrej Belancic, Almir Fajkic   +7 more
wiley   +1 more source

Case report: Behavioral variant FTD confounding a language variant FTD in a case of PSP-CBS

Frontiers in Dementia
Frontotemporal dementia (FTD) occurs in two main clinical subtypes, which can transition into one another: the behavioral variant (bvFTD) and the language variant (primary progressive aphasia; PPA).
Alexandra V. Jürs, Alexandra V. Jürs, Elisabeth Kasper, Manuela Neumann, Manuela Neumann, Jens Kurth, Bernd J. Krause, Daniel Cantré, Johannes Prudlo, Johannes Prudlo   +9 more
doaj   +1 more source

Unsupervised clustering of electroclinical features in temporal lobe epilepsy: A data‐driven approach

Epileptic Disorders, EarlyView.
Abstract Objective To identify clinically meaningful patterns in ictal electroclinical features of focal epilepsy using a data‐driven, unsupervised learning approach, and to assess whether such patterns can localize and lateralize the epileptogenic zone (EZ) more accurately than conventional electroclinical interpretation.
Maria Vlachou, Bernadett Molnár, Helene Kaas, Jesper Tveit, Harald Aurlien, Martin Ejler Fabricius, Guido Rubboli, Lars Hageman Pinborg, Sándor Beniczky   +8 more
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

A review on primary progressive aphasia

Neuropsychiatric Disease and Treatment, 2007
Gabriel C Léger1,2, Nancy Johnson31Neurology Service, Hôtel-Dieu du Centre Hospitalier de l’Univertité de Montréal, Montréal, Québec, Canada; 2Faculty of Medicine, Universit& ...
Gabriel C Léger, Nancy Johnson   +1 more
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