Neurología: Recent submissions

  • Case report: A 50 year-old Down syndrome man exhibiting noAlzheimer’s disease biomarker profile nor cognitiveimpairment. Experience from the Argentine Initiative for theStudy of Down syndrome and Alzheimer’s 
    Clas, Giulia Solange; Pertierr, Lucía; Helou, María Belén; Tapajóz Pereira de Sampaio, Fernanda, Fernanda; Magrath Guimet, Nahuel; Allegri, Ricardo Francisco; Marazita, Mariela; Romorini, Leonardo; Surace, Ezequiel Ignacio (Wiley, 2024)
    Background: Down Syndrome (DS) is the most common genetic form of intellectualdisability. In recent years, there has been a significant increase in the life expectancyof individuals with DS, currently reaching the age of ...
  • Additional Cladribine tablets treatment courses in multiple sclerosis patients. A retrospective observational study in Latin American countries 
    Silva, Berenice Anabel; Ysrraelit, María Célica; Zanga, Gisela; Segamarchi, María Constanza; Cragnolini, Carolina; Galleguillos, Lorna; Halfon, Mario Javier; Miguez, Jimena; Parada Marcilla, Marcela; Pereyra, Adriana; Silva, Emanuel; Vrech, Carlos; D'Eramo, Mariana; Negrotto, Laura (Elsevier, 2025-01-14)
    The use of additional cladribine tablets treatment courses is becoming an option in patients with multiple sclerosis (MS) showing disease activity after treatment initiation. Despite the availability over the past year of ...
  • Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review 
    Rossi, Malco Damián; Schaake, Susen; Usnich, Tatiana; Boehm, Josephine; Steffen, Nina; Schell, Nathalie; Krüger, Clara; Gül-Demirkale, Tuğçe; Bahr, Natascha; Kleinz, Teresa; Madoev, Harutyun; Laabs, Björn-Hergen; Gan-Or, Ziv; Alcalay, Roy N.; Lohmann, Katja; Klein, Christine (Wiley, 2025-02-10)
    Depending on zygosity and the specific change, different variants in the GBA1 gene can cause Parkinson's disease (PD, PARK-GBA1) with reduced penetrance, act as genetic risk factors for PD or parkinsonism, and/or lead to ...
  • Performance of treatment response scoring systems among patients with multiple sclerosis treated with high-efficacy therapies 
    Marrodán, Mariano; Sao Avilés, Augusto; Río, Jordi; Cobo-Calvo, Álvaro; Fernández, Victoria; Pappolla, Agustin; Castilló, Joaquín; Vidal-Jordana, Ángela; Arrambide, Georgina; Tur, Carmen; Rodríguez-Acevedo, Breogán; Zabalza, Ana; Mongay-Ochoa, Neus; Vilaseca, Andreu; Rodriguez, Marta; Galán, Ingrid; Comabella, Manuel; Sastre-Garriga, Jaume; Tintoré, Mar; Auger, Cristina (Sage, 2025-02-10)
    Background: Predicting treatment response and disease progression in multiple sclerosis (MS) is challenging. Treatment Response Scoring Systems (TRSS) are potentially useful, but their utility in patients receiving ...
  • The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset. 
    Liu, Haiyan; Marsh, Thomas W.; Shi, Xinyu; Renton, Alan E.; Bowling, Kevin M.; Ziegemeier, Ellen; Wang, Guoqiao; Cao, Yuchen; Aristel, Alisha; Li, Jessie; Dickson, Alexa; Perrin, Richard J.; Goate, Alison M.; Fernández, Victoria; Day, Gregory S.; Doering, Michelle; Daniels, Alisha; Supnet-Bell, Charlene; Allegri, Ricardo Francisco; Chrem Méndez, Patricio Alexis (Oxford University Press, 2025-02-04)
    We present a comprehensive global analysis of genetic variants associated with autosomal-dominant Alzheimer's disease (ADAD). A total of 550 variants in the APP, PSEN1, and PSEN2 genes were identified, of which 279 were ...
  • Exosomal mRNA Signatures as Predictive Biomarkers for Risk and Age of Onset in Alzheimer's Disease 
    Bolívar, Daniel A.; Mosquera Heredia, María I.; Vidal, Oscar M.; Barceló, Ernesto; Allegri, Ricardo Francisco; Morales, Luis C.; Silvera Redondo, Carlos; Arcos Burgos, Mauricio; Garavito Galofre, Pilar; Vélez, Jorge I. (MDPI, 2024-11-15)
    Alzheimer's disease (AD) is a neurodegenerative disorder characterized by progressive cognitive decline and memory loss. While the precise causes of AD remain unclear, emerging evidence suggests that messenger RNA (mRNA) ...
  • Eculizumab or ravulizumab treatment effect in people with neuromyelitis optica spectrum disorder: a plain language summary of three studies 
    Damasceno, Alfredo; Marrodán, Mariano (Future Medicine, 2025-02-12)
    What is this summary about?: Neuromyelitis optica spectrum disorder (NMOSD for short) is a rare autoimmune health condition, meaning that the body's natural defense system (the immune system) attacks the body's own tissues. ...
  • Adult polyglucosan body disease: ultrarare but commonly misdiagnosed 
    Caiza-Zambrano, Francisco; Aldecoa, Mayra; Rugilo, Carlos; Taratuto, Ana Lía; Marchesoni, Cintia; León-Cejas, Luciana; Reisin, Ricardo; Bonardo, Pablo (BMJ Pub. Group, 2025-02-16)
    Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in GBE-1 gene. Affected patients typically have urinary dysfunction, progressive gait disturbance and cognitive impairment. ...
  • Validation of an Artificial Intelligence-Powered Virtual Assistant for Emergency Triage in Neurology 
    Alessandro, Lucas; Crema, Santiago; Castiglione, Juan Ignacio; Dossi, Daiana Elizabeth; Eberbach, Federico; Kohler, Alejandro Alfredo; Laffue, Alfredo Hernan; Marone, Abril; Nagel, Vanesa; Pastor Rueda, José Manuel; Varela, Francisco José; Fernández Slezak, Diego; Rodríguez Murúa, Sofía; Debasa, Carlos; Pensa, Claudio; Farez, Mauricio Franco (Lippincott Williams & Wilkins, 2025-02-06)
    Objectives: Neurological emergencies pose significant challenges in medical care in resource-limited countries. Artificial intelligence (AI), particularly health chatbots, offers a promising solution. Rigorous validation ...
  • A Leaving Note from the Editors of Movement Disorders Clinical Practice 
    Bhatia, Kailash P.; Merello, Marcelo (Wiley, 2024-11-13)
  • Impact of COVID-19 on functional, cognitive, neuropsychiatric, and health-related outcomes in patients with dementia: A systematic review 
    Crivelli, Lucía; Winkler, Andrea Sylvia; Keller, Greta; Beretta, Simone; Calandri, Ismael Luis; De Groote, Wouter; Fornari, Arianna; Frontera, Jennifer; Kivipelto, Miia; Lopez-Rocha, Ana Sabsil; Mangialasche, Francesca; Munblit, Daniel; Palmer, Katie; Guekht, Alla; Allegri, Ricardo Francisco (Elsevier, 2025-03)
    Background This systematic review analyzes the impact of COVID-19 on dementia patients' functional, cognitive, neuropsychiatric, and health related outcomes. It hypothesizes that dementia patients infected with ...
  • Exploring Perceived Gender Disparities in Latin America's Vascular Neurology Workforce: Insights from a Survey-Based Study 
    Rosales, Julieta Soledad; Rocha, Eva; Colares Lessa, Vanessa Cristina; Brunet, Florencia; Rodriguez, María Paz; Cano, Vanessa; Orjuela, Karen D.; de Souza, Ana Cláudia; LUMNI Committee. ALATAC group (Karger, 2024-11-07)
    Introduction: Limited research exists on women's challenges as specialized healthcare professionals in Latin America's stroke field. This survey-based study addresses the potential gender disparities in these professionals' ...
  • Survey among experts on the future role of tau-PET in clinical practice and trials 
    Vermeiren, Marie R.; Calandri, Ismael Luis; van der Flier, Wiesje M.; van de Giessen, Elsmarieke; Ossenkoppele, Rik (Wiley on behalf of the Alzheimer's Association, 2024)
    Background: Recent advancements in Alzheimer's disease (AD) biomarker research and clinical trials prompt reflection on the value and consequently appropriate use of tau positron emission tomography (tau-PET) in the ...
  • Dementia risk reduction in the African context: Multi-national implementation of multimodal strategies to promote healthy brain aging in Africa (the Africa-FINGERS project) 
    Udeh-Momoh, Chinedu T.; Maina, Rachel; Anazodo, Udunna C.; Akinyemi, Rufus; Atwoli, Lukoye; Baker, Laura; Bassil, Darina; Blackmon, Karen; Bosire, Edna; Chemutai, Gloria; Crivelli, Lucía; Ez, Laz U.; Ibanez, Agustin; Kafetsouli, Dimitra; Karikari, Thomas K.; Khakali, Linda; Kumar, Manasi; Lengyel, Imre; de Jager Loots, Celeste A.; Africa‐FINGERS Study Team (John Wiley & Sons, 2024-11-07)
    Dementia prevention in Africa is critically underexplored, despite the continent's high prevalence of modifiable risk factors. With a predominantly young and middle-aged population, Africa presents a prime opportunity to ...
  • Telemedicine networks for acute stroke: An analysis of global coverage, gaps, and opportunities 
    Tunkl, Christine; Agarwal, Ayush; Ramage, Emily; Saleh Velez, Faddi; Roushdy, Tamer; Ullberg, Teresa; Li, Linxin; Carbonera, Leonardo Augusto; Yusof Khan, Abdul Hanif Khan; Ciopleias, Bogdan; Kang Law, Zhe; Katsanos, Aristeidis H.; Heldner, Mirjam R.; Khan, Maria; Matuja, Sarah; Alet, Matías Javier; Lagos-Servellón, Javier; Minhas, Jatinder S.; Zuurbier, Susanna M.; Mosconi, Maria Giulia (SAGE Publications, 2024-11-15)
  • Duchenne muscular distrophy in Tafí del Valle, Tucumán, Argentina. 
    Sarandría, María Eugenia; Rey, Roberto D.; De Rosa, Rodrigo; Corbalán, Vanesa; Mesa, Lilia (Fundación Revista Medicina (Buenos Aires), 2024)
    Introduction: Duchenne muscular dystrophy (DMD) is an inherited, X-linked neuromuscular disorder with a global cumulative prevalence of 7.1 cases every 100 000 males. A relationship between consanguinity and DMD has ...
  • Editorial: "Writing Is a Way of Thinking" Gabriel Garcia Marquez El Olor de la Guayaba, 1982 
    Merello, Marcelo; Bhatia, Kailash P. (Wiley, 2024-11-05)
  • Comparative neurofilament light chain trajectories in CSF and plasma in autosomal dominant Alzheimer's disease 
    Hofmann, Anna; Häsler, Lisa M.; Lambert, Marius; Kaeser, Stephan A.; Gräber-Sultan, Susanne; Obermüller, Ulrike; Kuder-Buletta, Elke; La Fougère, Christian; Laske, Christoph; Vöglein, Jonathan; Levin, Johannes; Fox, Nick C.; Ryan, Natalie S.; Zetterberg, Henrik; Llibre Guerra, Jorge J.; Perrin, Richard J.; Ibanez, Laura; Allegri, Ricardo Francisco; Chrem Méndez, Patricio Alexis; Dominantly Inherited Alzheimer Network (Nature Pub. Group, 2024)
    Disease-modifying therapies for Alzheimer's disease (AD) are likely to be most beneficial when initiated in the presymptomatic phase. To track the benefit of such interventions, fluid biomarkers are of great importance, ...
  • Brain morphometry in transient global amnesia: a triangulated analysis approach 
    Hernández, Micaela Anahí; Chaves, Hernán; Allegri, Ricardo Francisco; Calandri, Ismael Luis (Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento, 2024)
    Transient global amnesia (TGA) is a rare, temporary, sudden-onset disturbance in anterograde episodic memory with unclear pathophysiology. Previous brain volumetric analysis in TGA patients showed varied results. Objective: ...
  • Alzheimer Disease as a Clinical-Biological Construct-An International Working Group Recommendation 
    Dubois, Bruno; Villain, Nicolas; Schneider, Lon; Fox, Nick C.; Campbell, Noll; Galasko, Douglas; Kivipelto, Miia; Jessen, Frank; Hanseeuw, Bernard J.; Boada, Mercè; Barkhof, Frederik; Nordberg, Agneta; Froelich, Lutz; Waldemar, Gunhild; Frederiksen, Kristian Steen; Padovani, Alessandro; Planche, Vincent; Rowe, Christopher C.; Bejanin, Alexandre; Allegri, Ricardo Francisco (American Medical Association, 2024-11-01)
    Importance: Since 2018, a movement has emerged to define Alzheimer disease (AD) as a purely biological entity based on biomarker findings. The recent revision of the Alzheimer Association (AA) criteria for AD furthers this ...

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