Neurología: Recent submissions

  • Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project 
    Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N.; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A.; Barkhuizen, Melinda; Basak, A. Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Belin, Andrea Carmine; Merello, Marcelo (Public Library of Science, 2023-10-03)
    Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a ...
  • Predictors and Pathophysiology of Axial Postural Abnormalities in Parkinsonism: A Scoping Review 
    Artusi, Carlo Alberto; Geroin, Christian; Nonnekes, Jorik; Aquino, Camila; Garg, Divyani; Dale, Marian L.; Schlosser, Darbe; Lai, Yijie; Al-Wardat, Mohammad; Salari, Mehri; Wolke, Robin; Tsinda Labou, Valery; Imbalzano, Gabriele; Camozzi, Serena; Merello, Marcelo; Bloem, Bastiaan R.; Capato, Tamine; Djaldetti, Ruth; Doherty, Karen; International Parkinson and Movement Disorders Society Task Force on Postural Abnormalities (Wiley, 2023-09-06)
    Background: Postural abnormalities involving the trunk are referred to as axial postural abnormalities and can be observed in over 20% of patients with Parkinson's disease (PD) and in atypical parkinsonism. These symptoms ...
  • Migraine in older adults 
    Hugger, Sarah Sonja; Do, Thien Phu; Ashina, Håkan; Goicochea, María Teresa; Jenkins, Bronwyn; Sacco, Simona; Lee, Mi Ji; Brennan, K. C.; Amin, Faisal Mohammad; Steiner, Timothy J.; Ashina, Messoud (Elsevier, 2023-09-20)
    Migraine is an evolving, and sometimes lifelong disorder. The prevalence of episodic migraine peaks among individuals aged in their late 30s, implying a tendency for the disorder to remit with increasing age thereafter, ...
  • Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage 
    Joseph-Mathurin, Nelly; Feldman, Rebecca L.; Lu, Ruijin; Shirzadi, Zahra; Toomer, Carmen; Saint Clair, Junie R.; Ma, Yinjiao; McKay, Nicole S.; Strain, Jeremy F.; Kilgore, Collin; Friedrichsen, Karl A.; Chen, Charles D.; Gordon, Brian A.; Chen, Gengsheng; Hornbeck, Russ C.; Massoumzadeh, Parinaz; McCullough, Austin; Wang, Qing; Li, Yan; Allegri, Ricardo Francisco; Dominantly Inherited Alzheimer Network (John Wiley & Sons, 2024-02-21)
    Introduction: Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's disease (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated ...
  • Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome 
    Gorijala, Priyanka; Aslam, M. Muaaz; Dang, Lam-Ha T.; Xicota, L.; Fernández, María V.; Sung, Yun Ju; Fan, Kang-Hsien; Feingold, Eleanor; Surace, Ezequiel Ignacio; Chhatwal, Jasmeer P.; Hom, Christy L.; Dominantly Inherited Alzheimer Network; NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators; Hartley, Sigan L.; Hassenstab, Jason; Perrin, Richard J.; Mapstone, Mark; Zaman, Shahid H.; Ances, Beau M.; Kamboh, M. Ilyas; Lee, Joseph H.; Cruchaga, Carlos (John Wiley & Sons, 2023-10-19)
    Introduction: This study aimed to investigate the influence of the overall Alzheimer's disease (AD) genetic architecture on Down syndrome (DS) status, cognitive measures, and cerebrospinal fluid (CSF) biomarkers. Methods: ...
  • The clinical and biochemical spectrum of ectopic acromegaly 
    Fainstein Day, Patricia; Ullmann, Tamara Estefanía; Dalurzo, Mercedes Corina Liliana; Sevlever, Gustavo Emilio; Smith, David Eduardo (Elsevier, 2024-02-14)
    Ectopic acromegaly is a rare condition caused by extrapituitary central or peripheral neuroendocrine tumours (NET) that hypersecrete GH or, more commonly, GHRH. It affects less than 1% of acromegaly patients and a misdiagnosis ...
  • Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases 
    Castiglione, Juan Ignacio; Crespo, José Manuel; Bendersky, Mariana; Silveira, Facundo Oscar; Lecchini, Lucila; Luis, María Belén; Caiza Zambrano, Francisco; Cotti, Norberto; Simison, Conrado J.; Aguirre, Florencia; Piedrabuena, María Agustina; Alonso, Ricardo; Azcona, Carolina Laura; Sosa, Pablo Sebastian; Maldonado, Evangelina; Varela, Francisco José; Bettini, Mariela; Rey, Roberto D.; León Cejas, Luciana; Barroso, Fabio Adrián (Lippincott Williams & Wilkins, 2023-09-01)
    In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain-Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be ...
  • Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy 
    Coelho, Teresa; Marques, Wilson; Dasgupta, Noel R.; Chao, Chi-Chao; Parman, Yeşim; Cavalcante França Jr, Marcondes; Guo, Yuh-Cherng; Wixner, Jonas; Ro, Long-Sun; Calandra, Cristian R.; Kowacs, Pedro A.; Berk, John L.; Obici, Laura; Barroso, Fabio Adrián; Weiler, Markus; Conceição, Isabel; Jung, Shiangtung W.; Buchele, Gustavo; Brambatti, Michela; NEURO-TTRansform Investigators (American Medical Association, 2023-09-28)
    Importance: Transthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis. Objective: To evaluate eplontersen, an investigational ligand-conjugated antisense oligonucleotide, ...
  • Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease 
    Johnson, Erik C. B.; Bian, Shijia; Haque, Rafi U.; Carter, E. Kathleen; Watson, Caroline M.; Gordon, Brian A.; Ping, Lingyan; Duong, Duc M.; Epstein, Michael P.; McDade, Eric; Barthélemy, Nicolas R.; Karch, Celeste M.; Xiong, Chengjie; Cruchaga, Carlos; Perrin, Richard J.; Wingo, Aliza P.; Dominantly Inherited Alzheimer Network (Nature Publishing Company, 2023-08-07)
    Alzheimer's disease (AD) pathology develops many years before the onset of cognitive symptoms. Two pathological processes-aggregation of the amyloid-β (Aβ) peptide into plaques and the microtubule protein tau into ...
  • Thrombocytopenic thrombotic purpura related to COVID-19 vaccine: apropos of 4 cases 
    Dos Santos, Celia; Castera, Santiago; Fernández, José; Rosales, Julieta Soledad; Boughen, Santiago; Iastrebner, Marcelo; Guerrero, Osvaldo; Amell Menco, Carlos; Gomez, Mariela; González, Jacqueline; Alberto, María Fabiana; Sánchez Luceros, Analía (Elsevier, 2023-12-30)
    The global pandemic of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) led to vaccine deployment in record time.1 Very rare cases of thrombotic events associated ...
  • Radiofrequency Ablation: How to Ensure Worldwide Availability of Surgery for Parkinson's Disease 
    Merello, Marcelo; Hariz, Marwan (Wiley, 2024-01-16)
  • A plain language summary on assessing the long-term effectiveness of cladribine tablets in people living with relapsing multiple sclerosis: The CLASSIC-MS study 
    Giovannoni, Gavin; Boyko, Alexey; Correale, Jorge; Edan, Gilles; Freedman, Mark S.; Montalban, Xavier; Rammohan, Kottil; Stefoski, Dusan; Yamout, Bassem; Leist, Thomas; Aydemir, Aida; Borsi, Laszlo; Verdun di Cantogno, Elisabetta (Future Medicine, 2023-08-03)
    What is this summary about?: Previous studies have shown that people living with multiple sclerosis (MS) treated with cladribine tablets have fewer relapses (where new symptoms occur or existing symptoms get worse for 24 ...
  • Unravelling the landscape of Cannabis craving pharmacological treatments: a PRISMA-guided review of evidence 
    Cruz Preto, Mayra; Trevizan Kortas, Guilherme; Kanaan Blaas, Israel; Silva Lassi, Dangela Layne; Waisman Campos, Marcela; Torales, Julio César; Ventriglio, Antonio; de Azevedo-Marques Périco, Cintia; Guerra de Andrade, Arthur; Castaldelli-Maia, João Mauricio (Informa Healthcare, 2023-07-21)
    Currently, few treatments are available for craving in general, and none of them have received approval for cannabis craving. The objective of this review is to evaluate existing studies analysing treatments for cannabis ...
  • Risk of Neurodegenerative Disease after Viral Infections: The Increasing Load of Evidence 
    Holgado, Carla; Lopez, Gala; Castillo Torres, Sergio Andrés (Wiley, 2023-07-13)
    Resumen no disponible
  • Regional Initiatives to Empower Young Medical Doctors: The Young Stroke Latin American Task Force (ALATAC) 
    Rosales, Julieta Soledad; Corredor-Quintero, Angel Basilio; Carbonera, Leonardo Augusto; Alet, Matías Javier; Amaya, Pablo; Cano, Vanessa; Barboza, Miguel A.; Navia, Víctor Hugo; Jiménez, Claudio Alejandro; Guerrero, Rodrigo; de Souza, Ana Cláudia (Karger, 2023-07-03)
    Local and regional cooperation may strengthen efforts to reduce stroke burden in low-resource settings. New generations full of energy, honoring the past achievements of mentors and current stroke leaders, have the potential ...
  • Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN) 
    McKay, Nicole S.; Gordon, Brian A.; Hornbeck, Russ C.; Dincer, Aylin; Flores, Shaney; Keefe, Sarah J.; Joseph-Mathurin, Nelly; Jack Jr, Clifford R.; Koeppe, Robert A.; Millar, Peter R.; Ances, Beau M.; Chen, Charles D.; Daniels, Alisha; Hobbs, Diana A.; Jackson, Kelley; Koudelis, Deborah; Massoumzadeh, Parinaz; McCullough, Austin; Allegri, Ricardo Francisco; Dominantly Inherited Alzheimer Network (Nature Publishing Group, 2023-07-10)
    The Dominantly Inherited Alzheimer Network (DIAN) is an international collaboration studying autosomal dominant Alzheimer disease (ADAD). ADAD arises from mutations occurring in three genes. Offspring from ADAD families ...
  • Oxidative stress associated with spatial memory impairment and social olfactory deterioration in female mice reveals premature aging aroused by perinatal protein malnutrition 
    Ferroni, Nadina M.; Chertoff, Mariela J.; Alberca, Carolina D.; Berardino, Bruno G.; Gianatiempo, Octavio; Brahamian, Martin; Levi, Valeria; Urrutia, Leandro; Falasco, Germán; Cánepa, Eduardo Tomás; Sonzogni, Silvina V. (Elsevier, 2023-07-16)
    Early-life adversity, like perinatal protein malnutrition, increases the vulnerability to develop long-term alterations in brain structures and function. This study aimed to determine whether perinatal protein malnutrition ...
  • Pituitary stem cells: past, present and future perspectives 
    Pérez Millán, María Inés; Cheung, Leonard Y.M.; Mercogliano, Florencia; Camilletti, María Andrea; Chirino Felker, Gonzalo T.; Moro, Lucía Natalia; Miriuka, Santiago Gabriel; Brinkmeier, Michelle L.; Camper, Sally A. (Nature Pub. Group, 2023-12-15)
    Pituitary cells that express the transcription factor SOX2 are stem cells because they can self-renew and differentiate into multiple pituitary hormone-producing cell types as organoids. Wounding and physiological challenges ...
  • Sífilis ocular: alerta para clínicos y oftalmólogos 
    Camporro, Julieta; Del Castillo, Marcelo Ernesto; Mora, Claudia A. (Fundación Revista Medicina (Buenos Aires), 2023)
    Syphilis is an infectious disease caused by the spirochete Treponema pallidum. It can cause ocular compromise at any stage, in immunocompetent or immunocompromised patients. Even though the ocular form is not frequent, due ...
  • Movement Disorders Clinical Practice Third Annual Conference 
    Merello, Marcelo; Bhatia, Kailash P. (Wiley, 2023-12-26)

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