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JOURNAL ARTICLE
Jaroslaw Dulski, Peizhou Jiang, Wen-Lang Lin, Dennis W Dickson, Zbigniew K Wszolek
OBJECTIVES: To validate a recently published study in which skin biopsy was reported as a valuable alternative to brain biopsy in diagnosing CSF1R -related disorder ( CSF1R -RD). METHODS: Blinded evaluation of skin samples was performed by independent reviewers using light and electron microscopy collected from a group of CSF1R variant carriers (n = 10) with various genotypes (mono and biallelic), different stages of the disease (asymptomatic and symptomatic), and exposed to different therapies (glucocorticoids, hematopoietic stem cell transplantation, and TREM2 agonist), and from a group of healthy controls (n = 5)...
June 11, 2024: Neurology
#2
EDITORIAL
Daniel G Di Luca, Joel S Perlmutter
No abstract text is available yet for this article.
June 11, 2024: Neurology
#3
JOURNAL ARTICLE
Jialei Yang, Xiaoyu Lin, Anxin Wang, Xia Meng, Xingquan Zhao, Jing Jing, Yijun Zhang, Hao Li, Yongjun Wang
BACKGROUND AND OBJECTIVES: Guidelines for posterior circulation ischemic stroke (PCIS) treatment are lacking and outcome prediction is crucial for patients and clinicians. We aimed to develop and validate a prognostic score to predict the poor outcome for patients with PCIS. METHODS: The score was developed from a prospective derivation cohort named the Third China National Stroke Registry (August 2015-March 2018) and validated in a spatiotemporal independent validation cohort (December 2017-March 2023) in China...
June 11, 2024: Neurology
#4
EDITORIAL
Raffaele Palladino, Lorenzo Monasta
No abstract text is available yet for this article.
June 11, 2024: Neurology
#5
JOURNAL ARTICLE
Gie Ken-Dror, Ida Martinelli, Elvira Grandone, Sini Hiltunen, Erik Lindgren, Maurizio Margaglione, Veronique Le Cam Duchez, Aude B Triquenot, Marialuisa Zedde, Michelangelo Mancuso, Ynte M Ruigrok, Bradford B Worrall, Jennifer J Majersik, Jukka Putaala, Elena Haapaniemi, Susanna Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Maria Abbattista, Paolo Bucciarelli, Robin Lemmens, Emanuela Pappalardo, Paolo Costa, Marina Colombi, Diana Aguiar De Sousa, Sofia G Rodrigues, Patrícia Canhao, Aleksander Tkach, Rosa Santacroce, Giovanni Favuzzi, Antonio Arauz, Donatella Colaizzo, Konstantinos Spengos, Amanda Hodge, Reina Ditta, Alessandro Pezzini, Jonathan M Coutinho, Vincent N Thijs, Katarina Jood, Guillaume Pare, Turgut Tatlisumak, José M Ferro, Pankaj Sharma
BACKGROUND AND OBJECTIVES: Gene-gene interactions likely contribute to the etiology of multifactorial diseases such as cerebral venous thrombosis (CVT) and could be one of the main sources of known missing heritability. We explored Factor XI ( F11 ) and ABO gene interactions among patients with CVT. METHODS: Patients with CVT of European ancestry from the large Bio-Repository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) international collaboration were recruited...
June 11, 2024: Neurology
#6
JOURNAL ARTICLE
Christopher J Becker, Heidi Sucharew, David Robinson, Brian Stamm, Regina Royan, Lisa Nobel, Robert J Stanton, Adam S Jasne, Daniel Woo, Felipe De Los Rios La Rosa, Jason Mackey, Simona Ferioli, Eva A Mistry, Stacie Demel, Mary Haverbusch, Elisheva Coleman, Sabreena Slavin, Kyle B Walsh, Michael Star, Matthew L Flaherty, Sharyl R Martini, Brett Kissela, Dawn Kleindorfer
BACKGROUND AND OBJECTIVES: Poverty is associated with greater stroke incidence. The relationship between poverty and stroke recurrence is less clear. METHODS: In this population-based study, incident strokes within the Greater Cincinnati/Northern Kentucky region were ascertained during the 2015 study period and followed up for recurrence until December 31, 2018. The primary exposure was neighborhood socioeconomic status (nSES), defined by the percentage of households below the federal poverty line in each census tract in 4 categories (≤5%, >5%-10%, >10%-25%, >25%)...
June 11, 2024: Neurology
#7
EDITORIAL
Colin W Hoy, Winston Chiong
No abstract text is available yet for this article.
June 11, 2024: Neurology
#8
JOURNAL ARTICLE
Hadassa Kwetsie, Malu van Schaijk, Sven Van Der Lee, Dederieke Maes-Festen, Leontine W Ten Hoopen, Mieke M van Haelst, Michael Coesmans, Esther Van Den Berg, Marie Claire Y De Wit, Yolande Pijnenburg, Eleonora Aronica, Erik Boot, Agnies M Van Eeghen
BACKGROUND AND OBJECTIVES: Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs. METHODS: A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022...
June 11, 2024: Neurology
#9
JOURNAL ARTICLE
Adam de Havenon, Iyanuoluwa Ayodele, Brooke Alhanti, Brian Mac Grory, Ying Xian, Gregg Fonarow, Eric E Smith, Bradford B Worrall
OBJECTIVES: A reliable method of predicting large vessel occlusion (LVO) stroke in data sets without neuroimaging could be retrospectively applied to expand research efforts. METHODS: We conducted a retrospective, cross-sectional cohort analysis of the Get With The Guidelines (GWTG)-Stroke registry. We included adult patients with a final diagnosis of ischemic stroke from 2016 to 2021 who had brain and vascular imaging and excluded those with missing data or posterior circulation stroke...
June 11, 2024: Neurology
#10
JOURNAL ARTICLE
Alexandra Hastings, Patrick Cullinane, Sarah Wrigley, Tamas Revesz, Huw R Morris, John C Dickson, Zane Jaunmuktane, Thomas T Warner, Eduardo De Pablo-Fernández
BACKGROUND AND OBJECTIVES: Degeneration of the presynaptic nigrostriatal dopaminergic system is one of the main biological features of Parkinson disease (PD), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which can be measured using single-photon emission CT imaging for diagnostic purposes. Despite its widespread use in clinical practice and research, the diagnostic properties of presynaptic nigrostriatal dopaminergic (DAT) imaging in parkinsonism have never been evaluated against the diagnostic gold standard of neuropathology...
June 11, 2024: Neurology
#11
REVIEW
Lidia Moura, David T Jones, Irfan S Sheikh, Shawn Murphy, Michael Kalfin, Benjamin R Kummer, Allison L Weathers, Zachary M Grinspan, Heather M Silsbee, Lyell K Jones, Anup D Patel
Large language models (LLMs) are advanced artificial intelligence (AI) systems that excel in recognizing and generating human-like language, possibly serving as valuable tools for neurology-related information tasks. Although LLMs have shown remarkable potential in various areas, their performance in the dynamic environment of daily clinical practice remains uncertain. This article outlines multiple limitations and challenges of using LLMs in clinical settings that need to be addressed, including limited clinical reasoning, variable reliability and accuracy, reproducibility bias, self-serving bias, sponsorship bias, and potential for exacerbating health care disparities...
June 11, 2024: Neurology
#12
REVIEW
Richard N Rees, Alastair J Noyce, Anette E Schrag
Parkinson disease (PD) remains a progressive and incurable disease. Research over the past decade provides strong evidence of a detectible phase before the clinical diagnosis, known as the prodromal phase of PD (pPD). In this article, we review the debate about disclosure of risk of progression to PD and related disorders to individuals through the perspectives of the pillars of medical ethics: beneficence, nonmaleficence, autonomy, and justice. There is evidence that lifestyle modification may have positive effects on onset and progression of PD, providing justification of potential benefit...
June 11, 2024: Neurology
#13
JOURNAL ARTICLE
Isabel Vidal, Ana Patrícia Antunes, Carlos Morgado, Nuno Simas, Rafael Roque, Luísa Albuquerque
Optic neuropathies include a wide range of disorders from ischemic, toxic, demyelinating, or inflammatory processes with acute/subacute onset to more gradual compressive or genetic etiologies. Accurate clinical history and multimodality optic nerve imaging including MRI and optical coherence tomography have greatly improved the diagnosis of patients with optic neuropathies. We report a case of a woman with severe monocular visual acuity deficit. Optic nerve sheath enhancement seen on MRI led to a broad differential diagnosis including demyelinating causes, optic nerve sheath meningioma (ONSM), tuberculosis, and sarcoid optic neuropathy...
June 11, 2024: Neurology
#14
REVIEW
Tomotaka Tanaka, Masafumi Ihara, Kazuki Fukuma, Nishant K Mishra, Matthias J Koepp, Alla Guekht, Akio Ikeda
Poststroke epilepsy (PSE) is associated with higher mortality and poor functional and cognitive outcomes in patients with stroke. With the remarkable development of acute stroke treatment, there is a growing number of survivors with PSE. Although approximately 10% of patients with stroke develop PSE, given the significant burden of stroke worldwide, PSE is a significant problem in stroke survivors. Therefore, the attention of health policymakers and significant funding are required to promote PSE prevention research...
June 11, 2024: Neurology
#15
JOURNAL ARTICLE
Chen Zhang, Wei Liu, Lijun Wang, Fei Wang, Jiao Li, Zheng Liu, Yinan Zhao, Maigeng Zhou, Peng Yin, Junwei Hao
BACKGROUND AND OBJECTIVES: Multiple sclerosis (MS) is the leading cause of neurologic disability in young adults, but the burden caused by MS in China is lacking. We aimed to comprehensively describe the prevalence and health loss due to MS by demographic and geographical variables from 1990 to 2019 across China. METHODS: Data were obtained from the Global Burden of Diseases, Injuries, and Risk Factors Study 2019 (GBD 2019). We used GBD methodology to systematically analyze the prevalence, disability-adjusted life-years (DALYs), years of life lost (YLLs), and years lived with disability (YLDs) due to MS by age, sex, and location from 1990 to 2019 in mainland China and its provinces...
June 11, 2024: Neurology
#16
JOURNAL ARTICLE
Julián Carrión-Penagos, Therese Dunne, James E Siegler
No abstract text is available yet for this article.
June 2024: Neurology
#17
JOURNAL ARTICLE
Charles-Joris Roux, Claire-Marine Dufeu-Berat, Marie Hully, Agnes Rotig, Manuel Schiff, Pascale De Lonlay, Mélodie Aubart, Marianne Alison, Marianne Jaroussie, Raphaël Levy, Volodia Dangouloff-Ros, Giulia Barcia, Isabelle Desguerre, Arnold Munnich, Cyril Gitiaux, Nathalie Boddaert
No abstract text is available yet for this article.
June 2024: Neurology
#18
JOURNAL ARTICLE
Nina-Maria Wilpert, Markus Schuelke, Birgit Lala, Claudia Weiß
No abstract text is available yet for this article.
June 2024: Neurology
#19
EDITORIAL
Jenny Bolk
No abstract text is available yet for this article.
June 2024: Neurology
#20
JOURNAL ARTICLE
Alison M Pack, Maryam Oskoui, Shawniqua Williams Roberson, Diane K Donley, Jacqueline French, Elizabeth E Gerard, David Gloss, Wendy R Miller, Heidi M Munger Clary, Sarah S Osmundson, Brandy McFadden, Kaitlyn Parratt, Page B Pennell, George Saade, Don B Smith, Kelly Sullivan, Sanjeev V Thomas, Torbjörn Tomson, Mary Dolan O'Brien, Kylie Botchway-Doe, Heather M Silsbee, Mark R Keezer
This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual...
June 2024: Neurology
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