Results 81 to 90 of about 25,095 (260)

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

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Impact of blood pressure variability and cerebral small vessel disease: A systematic review and meta-analysis

Heliyon
Importance: Abnormal blood pressure pattern is an independent risk factor for vascular events. Blood pressure variability can predict cardiovascular and cerebrovascular disease outcomes and is closely associated with the risk of cognitive impairment ...
Bingqing Zhao, Weihua Jia, Ye Yuan, Ying Chen, Yali Gao, Baoling Yang, Wei Zhao, Jingyi Wu   +7 more
doaj   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Volume and distribution of white matter hyperintensities in rheumatoid arthritis and ulcerative colitis patients

Scientific Reports
Brain white matter disruptions have been implicated in contributing to fatigue, brain fog and other central symptoms commonly reported in inflammatory diseases.
Jennifer G. Cox, James H. Cole, Matthew J. Kempton, Steven C. R. Williams, Marius de Groot   +4 more
doaj   +1 more source

Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers

Annals of Neurology, EarlyView.
Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang, Sid E. O'Bryant, Robert A. Rissman, Leigh A. Johnson, Meredith N. Braskie, Kristine Yaffe, the HABS‐HD Study Team, Sid E. O'Bryant, Kristine Yaffe, Arthur Toga, Robert Rissman, Leigh Johnson, Meredith Braskie, Kevin King, James R. Hall, Melissa Petersen, Raymond Palmer, Robert Barber, Yonggang Shi, Fan Zhang, Rajesh Nandy, Roderick McColl, David Mason, Bradley Christian, Nicole Phillips, Stephanie Large, Joe Lee, Badri Vardarajan, Monica Rivera Mindt, Amrita Cheema, Lisa Barnes, Mark Mapstone, Annie Cohen, Amy Kind, Ozioma Okonkwo, Raul Vintimilla, Zhengyang Zhou, Michael Donohue, Rema Raman, Matthew Borzage, Michelle Mielke, Beau Ances, Ganesh Babulal, Jorge Llibre‐Guerra, Carl Hill, Rocky Vig   +45 more
wiley   +1 more source

Cerebrospinal Fluid Amyloid‐β Biomarkers Predict Future Hemorrhage in Patients with Cerebral Amyloid Angiopathy

Annals of Neurology, EarlyView.
Objective Accurately predicting future hemorrhagic events in patients with cerebral amyloid angiopathy (CAA) remains a major clinical challenge. It is unknown whether cerebrospinal fluid (CSF) biomarkers of amyloid‐beta (Aβ) pathology are associated with increased hemorrhage risk in this population.
Philipp Arndt, Malte Pfister, Valentina Perosa, Hendrik Mattern, Melis Tas, Lara Holzheimer, Johanna Engel, Marc Dörner, Marwa Al‐Dubai, Cornelia Garz, Eya Khadhraoui, Sebastian J. Müller, Patrick Müller, Sven G. Meuth, Katja Neumann, Stefanie Schreiber   +15 more
wiley   +1 more source

Cerebrospinal Fluid Volume and Other Intracranial Volumes Are Associated with Fazekas Score in Adults: A Single Center Experience

Medicina
Background and Objectives: The objective of this research is to make a comparative evaluation of the correlation between the volumetric examination of subcortical cerebral regions and white matter hyperintensities classified according to the Fazekas ...
Melike Elif Kalfaoglu, Zeliha Cosgun, Aysenur Buz Yasar, Abdullah Emre Sarioglu, Gulali Aktas   +4 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

Connecting the dots: A narrative review of the relationship between heart failure and cognitive impairment

ESC Heart Failure, Volume 12, Issue 2, Page 1119-1131, April 2025.
Abstract Large clinical data underscore that heart failure is independently associated to an increased risk of negative cognitive outcome and dementia. Emerging evidence suggests that cerebral hypoperfusion, stemming from reduced cardiac output and vascular pathology, may contribute to the largely overlapping vascular dementia and Alzheimer's disease ...
Mauro Massussi, Maria Giulia Bellicini, Marianna Adamo, Andrea Pilotto, Marco Metra, Alessandro Padovani, Riccardo Proietti   +6 more
wiley   +1 more source