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Microglial function, INPP5D/SHIP1 signaling, and NLRP3 inflammasome activation: implications for Alzheimer’s disease Mol. Neurodegener. (IF 15.1) Pub Date : 2023-11-29 Gizem Terzioglu, Tracy L. Young-Pearse
Recent genetic studies on Alzheimer’s disease (AD) have brought microglia under the spotlight, as loci associated with AD risk are enriched in genes expressed in microglia. Several of these genes have been recognized for their central roles in microglial functions. Increasing evidence suggests that SHIP1, the protein encoded by the AD-associated gene INPP5D, is an important regulator of microglial
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Characterization of APOE Christchurch carriers in 455,306 UK Biobank participants Mol. Neurodegener. (IF 15.1) Pub Date : 2023-11-28 Karen Y. He, Ekaterina A. Khramtsova, Alfredo Cabrera-Socorro, Yanfei Zhang, Shuwei Li, Brice A. J. Sarver, Bart Smets, Qingqin S. Li, Louis De Muynck, Antonio R. Parrado, Simon Lovestone, Mary Helen Black
To the editor The APOE gene is a known genetic risk factor for neurodegeneration and cardiovascular disease (CVD) [1, 2]. Beyond the known effects of APOE ε2 and APOE ε4, several rare and protective APOE variants (R154S Christchurch (APOECh), V236E Jacksonville, and R251G) have been identified recently [3, 4]. The ultra-rare APOECh mutation (NM_000041.4(APOE):c.460C > A (p.Arg154Ser)), also known as
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G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons Acta Neuropathol. (IF 12.7) Pub Date : 2023-11-29 Jeffrey D. Rothstein, Victoria Baskerville, Sampath Rapuri, Emma Mehlhop, Paymaan Jafar-Nejad, Frank Rigo, Frank Bennett, Sarah Mizielinska, Adrian Isaacs, Alyssa N. Coyne
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Associations Between Social Network Characteristics and Brain Structure Among Older Adults Alzheimers Dement. (IF 14.0) Pub Date : 2023-11-28 Mohit K. Manchella, Paige E. Logan, Brea L. Perry, Siyun Peng, Shannon L. Risacher, Andrew J. Saykin, Liana G. Apostolova
Social connectedness is associated with slower cognitive decline among older adults. Recent research suggests that distinct aspects of social networks may have differential effects on cognitive resilience, but few studies analyze brain structure.
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Heart rate fragmentation and brain MRI markers of small vessel disease in MESA Alzheimers Dement. (IF 14.0) Pub Date : 2023-11-27 Susan R. Heckbert, Paul N. Jensen, Guray Erus, Ilya M. Nasrallah, Tanweer Rashid, Mohamad Habes, Thomas R. Austin, James S. Floyd, Christopher L. Schaich, Susan Redline, R. Nick Bryan, Madalena D. Costa
Heart rate (HR) fragmentation indices quantify breakdown of HR regulation and are associated with atrial fibrillation and cognitive impairment. Their association with brain magnetic resonance imaging (MRI) markers of small vessel disease is unexplored.
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“Association of blood cell indices and anemia with risk of incident dementia”: Missing important covariates in MRI analysis may be misleading Alzheimers Dement. (IF 14.0) Pub Date : 2023-11-27 Xinjie Zhang, Wenwu Zhou
This letter is in response to “Associations of blood cell indices and anemia with risk of incident dementia: A prospective cohort study of 313,448 participants” by Qiang and colleagues.1 Brain magnetic resonance imaging (MRI) is an important tool for understanding brain structure, offering an opportunity to evaluate the possible mechanisms underlying dementia progression.2, 3 In their recent article
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Associations of blood cell indices and anemia with risk of incident dementia Alzheimers Dement. (IF 14.0) Pub Date : 2023-11-27 Yi-Xuan Qiang, Yue-Ting Deng, Jin-Tai Yu
We thank Dr Zhang and Dr Zhou for their thoughtful comments to our work and appreciate the opportunity to address the two important issues they raised. First, Dr Zhang and Dr Zhou pointed out that our study, while accounting for the history of stroke, might not have adequately addressed other chronic brain disorders that could potentially influence brain structure and function. However, given the vast
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Trends in the prevalence of cognitive impairment at old age in China, 2002–2018 Alzheimers Dement. (IF 14.0) Pub Date : 2023-11-27 Huashuai Chen, Kaisy Xinhong Ye, Qiushi Feng, Kai Cao, Jintai Yu, Chunbo Li, Can Zhang, Lirong Yu, Andrea Britta Maier, Kenneth M. Langa, Chengxuan Qiu, Yi Zeng, Lei Feng
China has the world's largest number of older adults with cognitive impairment (CI). We aimed to examine secular trends in the prevalence of CI in China from 2002 to 2018.
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Intermediate science knowledge predicts overconfidence Trends Cogn. Sci. (IF 19.9) Pub Date : 2023-11-28 Carmen Sanchez, David Dunning
Lackner et al. found science overconfidence peaks at intermediate levels of knowledge. Those with intermediate knowledge also hold the most negative attitudes toward scientists. In doing so, they provide a novel measure of overconfidence that measures the tendency to give incorrect answers as opposed to answering, ‘I don’t know’.
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Breastfeeding and Mothers With Epilepsy Neurology (IF 9.9) Pub Date : 2023-11-28 Steven Karceski, Helene Quinn
In their study "Initiation and Duration of Breastfeeding in the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs Study," Gerard et al. carefully studied the differences in breastfeeding for women with and without epilepsy.1 Women with epilepsy face many challenges; for mothers with epilepsy, questions arise surrounding breastfeeding. For instance, "If I am taking a medication
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Teaching Video NeuroImage: The Digiti Quinti Sign as the Sole Objective Sign of Mild Hemiparesis Neurology (IF 9.9) Pub Date : 2023-11-28 Julia Peris-Subiza, Sergio Vidal-Notari, Elisa Cuadrado-Godia, Angel Ois, Ana Rodriguez-Campello, Daniel Guisado-Alonso
An 86-year-old man with hypertension, hyperlipidemia, type II diabetes, and atrial fibrillation (anticoagulated with low-dose rivaroxaban) presented with a 24-hour weakness of his left limbs, with difficulty in performing daily tasks.
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Teaching NeuroImage: CHANTER Syndrome Neurology (IF 9.9) Pub Date : 2023-11-28 Beatriz Rizkallah Alves, Daniel B. Rubin
A 44-year-old man with alcohol use disorder presented with unresponsiveness. Toxicology was positive for cocaine and fentanyl. Brain MRI showed multiple foci of restricted diffusion and extensive edema in the cerebellum, hippocampus, and basal ganglia (Figure). Imaging findings suggested cerebellar, hippocampal, and basal nuclei transient edema with restricted diffusion (CHANTER) syndrome, a rare radiographic
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Clinical Reasoning: A 24-Year-Old Pregnant Woman With Headache and Behavioral Change Progressing to Coma Neurology (IF 9.9) Pub Date : 2023-11-28 Catarina Bernardes, Ricardo Pires, Cláudia Farinha, João Lemos, Cláudia Lima, Sónia Batista
The broad differential diagnosis associated with progressive subacute encephalopathy can be intimidating, especially in a young, pregnant woman. In this case, a 24-year-old woman at 21 weeks of gestation presented with persistent, drug-resistant fronto-parietal headache, with subsequent progressive development of psychomotor lentification and inappropriate behavior. Physical examination was normal
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In Vivo Measurement of Tau Depositions in Anti-IgLON5 Disease Using [18F]PI-2620 PET Neurology (IF 9.9) Pub Date : 2023-11-28 Theis, H., Bischof, G. N., Brüggemann, N., Dargvainiene, J., Drzezga, A., Grüter, T., Lewerenz, J., Leypoldt, F., Neumaier, B., Wandinger, K.-P., Ayzenberg, I., van Eimeren, T.
Objectives Anti-IgLON5 disease is a recently discovered neurologic disorder combining autoimmunity and neurodegeneration. Core manifestations include sleep disorders, bulbar symptoms, gait abnormalities, and cognitive dysfunction, but other presentations have been reported. Hallmarks are autoantibodies targeting the neuronal surface protein IgLON5, a strong human leukocyte antigen system Class II association
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Using 18F-AV-133 VMAT2 PET Imaging to Monitor Progressive Nigrostriatal Degeneration in Parkinson Disease Neurology (IF 9.9) Pub Date : 2023-11-28 Leah C. Beauchamp, Vincent Dore, Victor L. Villemagne, SanSan Xu, David Finkelstein, Kevin J. Barnham, Christopher Rowe
Background and Objectives There are limited validated biomarkers in Parkinson disease (PD) which substantially hinders the ability to monitor disease progression and consequently measure the efficacy of disease-modifying treatments. Imaging biomarkers, such as vesicular monoamine transporter type 2 (VMAT2) PET, enable enhanced diagnostic accuracy and detect early neurodegenerative changes associated
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Survival Analysis of Immunotherapy Effects on Relapse Rate in Pediatric and Adult Autoimmune Encephalitis Neurology (IF 9.9) Pub Date : 2023-11-28 Jennifer H. Yang, Emilie N. Liu, Linda Nguyen, Anastasie Dunn-Pirio, Jennifer S. Graves
Background and Objectives Prior observational studies for autoimmune encephalitis (AE) have mostly focused on outcomes after acute immunotherapies with better outcomes associated with earlier immunotherapy use. However, the impact of long-term immunotherapy and its association with clinical relapse is not well known. Methods We conducted a retrospective study of consecutive patients meeting published
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Association Between Triglycerides and Risk of Dementia in Community-Dwelling Older Adults: A Prospective Cohort Study Neurology (IF 9.9) Pub Date : 2023-11-28 Zhen Zhou, Joanne Ryan, Andrew M. Tonkin, Sophia Zoungas, Paul Lacaze, Rory Wolfe, Suzanne G. Orchard, Anne M. Murray, John J. McNeil, Chenglong Yu, Gerald F. Watts, Sultana Monira Hussain, Lawrence J. Beilin, Michael E. Ernst, Nigel Stocks, Robyn L. Woods, Chao Zhu, Christopher M. Reid, Raj C. Shah, Trevor T.-J. Chong, Ajay Sood, Kerry M. Sheets, Mark R. Nelson
Background and Objectives It has been suggested that higher triglyceride levels were associated with a lower risk of Alzheimer disease. This study aimed to examine the association of triglycerides with dementia and cognition change in community-dwelling older adults. Methods This prospective longitudinal study used data from the Aspirin in Reducing Events in the Elderly (ASPREE) randomized trial of
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Association of Whole Grain Consumption and Cognitive Decline: An Investigation From a Community-Based Biracial Cohort of Older Adults Neurology (IF 9.9) Pub Date : 2023-11-28 Xiaoran Liu, Todd Beck, Klodian Dhana, Pankaja Desai, Kristin R. Krueger, Christy C. Tangney, Thomas M. Holland, Puja Agarwal, Denis A. Evans, Kumar B. Rajan
Background and Objectives To examine the association of whole grain consumption and longitudinal change in global cognition, perceptual speed, and episodic memory by different race/ethnicity. Methods We included 3,326 participants from the Chicago Health and Aging Project who responded to a Food Frequency Questionnaire (FFQ), with 2 or more cognitive assessments. Global cognition was assessed using
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Initiation and Duration of Breastfeeding in the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs Study Neurology (IF 9.9) Pub Date : 2023-11-28 Elizabeth E. Gerard, Kimford J. Meador, Chelsea P. Robalino, Carrie Anne Brown, Abigail G. Matthews, P. Emanuela Voinescu, Laura A. Kalayjian, Evan Gedzelman, Julie Hanna, Jennifer Cavitt, Maria Sam, Jacqueline A. French, Alison M. Pack, Sean T. Hwang, Jeffrey J. Tsai, Cora Taylor, Page B. Pennell, for the MONEAD Investigator Study Group
Background and Objectives Breastfeeding has important health benefits for both mother and child. We characterize breastfeeding initiation and duration in mothers with epilepsy relative to control mothers in a large prospective cohort. Methods The Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs study is a prospective, multicenter observational, US cohort study. Pregnant individuals
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Type, Etiology, and Duration of Epilepsy as Risk Factors for SUDEP: Further Analyses of a Population-Based Case-Control Study Neurology (IF 9.9) Pub Date : 2023-11-28 Olafur Sveinsson, Tomas Andersson, Sofia Carlsson, Torbjörn Tomson
Background and Objectives We conducted a nationwide case-control study in Sweden to investigate the risk of sudden unexpected death in epilepsy (SUDEP) in relation to epilepsy duration, epilepsy type, and etiology in combination with occurrence and frequency of tonic-clonic seizures (TCS) and nocturnal TCS. Methods The study comprised 255 SUDEP cases and 1,148 epilepsy controls. Clinical information
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Common Pathways of Epileptogenesis in Patients With Epilepsy Post-Brain Injury: Findings From a Systematic Review and Meta-analysis Neurology (IF 9.9) Pub Date : 2023-11-28 Shubham Misra, Erum I. Khan, TuKiet T. Lam, Rajarshi Mazumder, Kapil Gururangan, L. Brian Hickman, Vaibhav Goswami, Melissa C. Funaro, Ece Eldem, Lauren H. Sansing, Jason J. Sico, Terence J. Quinn, David S. Liebeskind, Joan Montaner, Patrick Kwan, Nishant K. Mishra
Background and Objectives Epilepsy may result from various brain injuries, including stroke (ischemic and hemorrhagic), traumatic brain injury, and infections. Identifying shared common biological pathways and biomarkers of the epileptogenic process initiated by the different injuries may lead to novel targets for preventing the development of epilepsy. We systematically reviewed biofluid biomarkers
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Associations Between Head Injury and Subsequent Risk of Falls: Results From the Atherosclerosis Risk in Communities (ARIC) Study Neurology (IF 9.9) Pub Date : 2023-11-28 Katherine J. Hunzinger, Connor A. Law, Holly Elser, Alexa E. Walter, B. Gwen Windham, Priya Palta, Stephen P. Juraschek, Caitlin W. Hicks, Rebecca F. Gottesman, Andrea L.C. Schneider
Background and Objectives Falls are a leading cause of head injury among older adults, but the risk of fall occurring after a head injury is less well-characterized. We sought to examine the association between head injury and subsequent risk of falls requiring hospital care among community-dwelling older adults. Methods This analysis included 13,081 participants in the Atherosclerosis Risk in Communities
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Association of EEG Background and Neurodevelopmental Outcome in Neonates With Hypoxic-Ischemic Encephalopathy Receiving Hypothermia Neurology (IF 9.9) Pub Date : 2023-11-28 Glass, H. C., Numis, A. L., Comstock, B. A., Gonzalez, F. F., Mietzsch, U., Bonifacio, S. L., Massey, S., Thomas, C., Natarajan, N., Mayock, D. E., Sokol, G. M., Van Meurs, K. P., Ahmad, K. A., Maitre, N., Heagerty, P. J., Juul, S. E., Wu, Y. W., Wusthoff, C. J.
Background and Objectives Predicting neurodevelopmental outcome for neonates with hypoxic-ischemic encephalopathy (HIE) is important for clinical decision-making, care planning, and parent communication. We examined the relationship between EEG background and neurodevelopmental outcome among children enrolled in a trial of erythropoietin or placebo for neonates with HIE treated with therapeutic hypothermia
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Association of Neighborhood Deprivation With Thrombolysis and Thrombectomy for Acute Stroke in a Health System With Universal Access Neurology (IF 9.9) Pub Date : 2023-11-28 Taghdiri, F., Vyas, M. V., Kapral, M. K., Lapointe-Shaw, L., Austin, P. C., Tse, P., Porter, J., Chen, Y., Fang, J., Yu, A. X.
Background and Objectives The association between socioeconomic status and acute ischemic stroke treatments remain uncertain, particularly in countries with universal health care systems. This study aimed to investigate the association between neighborhood-level material deprivation and the odds of receiving IV thrombolysis or thrombectomy for acute ischemic stroke within a single-payer, government-funded
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Vulnerable and Stabilized States After Cerebral Ischemic Events: Implications of Kinetic Modeling in the SOCRATES, POINT, and THALES Trials Neurology (IF 9.9) Pub Date : 2023-11-28 James R. Brorson, Mihai Giurcanu, Shyam Prabhakaran, S. Claiborne Johnston
Background and Objectives Trials of acute secondary prevention after minor stroke or transient ischemic attack (TIA), such as SOCRATES, POINT, and THALES, demonstrate a high initial rate of recurrence after ischemic events that drop quickly to a lower rate, suggesting a transient vulnerable clinical state, which may call for different treatments than the subsequent stabilized state. A kinetic model
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Author Response: Association of Alternative Anticoagulation Strategies and Outcomes in Patients With Ischemic Stroke While Taking a Direct Oral Anticoagulant Neurology (IF 9.9) Pub Date : 2023-11-28 Ip, Y. M. B., Hong Leung, T. W.
We sincerely thank Wolfe et al. for the comments. The low rate of large artery atherosclerotic disease (LAD) in our atrial fibrillation (AF) cohort1 echoed our other study that among ischemic strokes, the proportion of intracranial atherosclerotic disease declined from 23.3% to 8.8% from 2004 to 2018 in Hong Kong.2 This difference may explain the disparity in LAD rates because the cohort of minor strokes/TIA
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Reader Response: Association of Alternative Anticoagulation Strategies and Outcomes in Patients With Ischemic Stroke While Taking a Direct Oral Anticoagulant Neurology (IF 9.9) Pub Date : 2023-11-28 Jared Wolfe, James E. Siegler
We applaud Ip et al.1 for their investigation of outcomes associated with patients with atrial fibrillation who had an ischemic stroke while on a direct oral anticoagulant (DOAC).
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Editors' Note: Association of Alternative Anticoagulation Strategies and Outcomes in Patients With Ischemic Stroke While Taking a Direct Oral Anticoagulant Neurology (IF 9.9) Pub Date : 2023-11-28 Lewis, A., Ganesh, A., Galetta, S.
In a population-based, propensity score-weighted, retrospective cohort study, "Association of Alternative Anticoagulation Strategies and Outcomes in Patients With Ischemic Stroke While Taking a Direct Oral Anticoagulant," Ip et al. retrospectively identified 2,337 patients with nonvalvular atrial fibrillation who had an ischemic stroke while on a direct oral anticoagulant (DOAC) admitted to public
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Clinical Reasoning: A 22-Year-Old Man With Multifocal Brain and Osseous Lesions Neurology (IF 9.9) Pub Date : 2023-11-28 Reddy, S., Cha, S., LaHue, S. C.
The evaluation of patients with disseminated processes with CNS and osseous involvement is often challenging. A 22-year-old healthy man developed left-sided weakness, paresthesias, and neck pain over several weeks. On clinical examination, he was noted to have decreased right eye visual acuity, left-sided pyramidal weakness and numbness, and bilateral hyperreflexia. MRI revealed multifocal widespread
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Intramedullary Neurocysticercosis: A Case Report Neurology (IF 9.9) Pub Date : 2023-11-28 Stefano Machado, Egon Ewaldo Lindorfer Neto, Bruno de Carvalho Dornelas, Andrea de Martino Luppi, Elder Henrique de Oliveira, Paulo Cesar Marinho Dias, Maykell Queiroz dos Reis, Diogo Fernandes dos Santos
An 80-year-old man from the Brazilian Midwest presented with tetraparesis with brachial predominance and hyperreflexia with 1 year of evolution. In investigation, cervical MRI showed intramedullary cystic formation (4.6 x 1.7 x 1.3 cm), and brain MRI was suggestive of neurocysticercosis (Figure 1). CT of the chest, abdomen, and pelvis and endoscopy and colonoscopy were normal. CSF showed hyperproteinorachia
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Late-Onset Status Epilepticus Associated With Isolated Leptomeningeal Angioma and Sturge-Weber Syndrome-Related GNA11 Pathogenic Variation Neurology (IF 9.9) Pub Date : 2023-11-28 Louis Cousyn, Delphine Leclercq, Minh Chau Ta, François Gilbert, Lucas Di Meglio, Clémence Marois, Andrei Haddad, Bertrand Mathon, Mélanie Eyries, Vincent Navarro
A 61-year-old man with no neurologic history presented with 2 episodes of super-refractory left-sided focal motor status epilepticus 5 months apart. He developed a prolonged postictal left hemiparesis each time that improved over several weeks. He also experienced recurrent and transient left hemiplegia independently of any seizure after hypovolemic and septic shocks.
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CSF Volcano Due to Lateral Ventricle Entrapment and Rupture Neurology (IF 9.9) Pub Date : 2023-11-28 Marinos G. Sotiropoulos, Christine A. Eckhardt, Brian L. Edlow
A 74-year-old woman with probable cerebral amyloid angiopathy was found unresponsive. Initial head CT showed a frontoparietal hematoma with intraventricular extension, edema, and mass effect on the right lateral ventricle. She was intubated, and hyperosmolar therapy was initiated. CT 2 days later showed a new hypodensity in the right frontal lobe extending from the lateral ventricle to the cortical
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Improving Neurology Clinical Care With Natural Language Processing Tools Neurology (IF 9.9) Pub Date : 2023-11-28 Wendong Ge, Hunter J. Rice, Irfan S. Sheikh, M. Brandon Westover, Allison L. Weathers, Lyell K. Jones, Lidia Moura
The integration of natural language processing (NLP) tools into neurology workflows has the potential to significantly enhance clinical care. However, it is important to address the limitations and risks associated with integrating this new technology. Recent advances in transformer-based NLP algorithms (e.g., GPT, BERT) could augment neurology clinical care by summarizing patient health information
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Immunotherapy in Autoimmune Encephalitis: So Many Options, So Few Guidelines Neurology (IF 9.9) Pub Date : 2023-11-28 Isha N. Srivastava, Keith P. Van Haren
Autoimmune encephalitides (AE) are a group of immune-mediated disorders affecting a range of CNS functions. These disorders are characterized by subacute onset of rapidly progressive memory deficits, altered mental status, and/or psychiatric symptoms.1,2 Additional neurologic symptoms can include seizures, abnormal movements, sleep disturbances, and autonomic dysfunction.1,2
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Triglycerides and Cognition: Are All Lipids the Same? Neurology (IF 9.9) Pub Date : 2023-11-28 Nikolaos Scarmeas, Babak Hooshmand
Although there is an extensive literature on variable associations of different lipids with different health outcomes, dyslipidemia is more commonly viewed as a single entity. The literature on associations between dementia and lipids has been to a certain degree conflicting.1 U-shaped relations with dementia have been reported for low-density lipoprotein (LDL), high-density lipoprotein, and total
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Is Recurrent Stroke More Like a Campfire or a Light Switch? Neurology (IF 9.9) Pub Date : 2023-11-28 Christopher J. Becker, James F. Burke
Stroke recurrence risk is highly concentrated in the period immediately after the index event. Why? What is the basis for the extreme clustering of recurrent events into this narrow sliver of time?
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Non-invasive systemic viral delivery of human alpha-synuclein mimics selective and progressive neuropathology of Parkinson’s disease in rodent brains Mol. Neurodegener. (IF 15.1) Pub Date : 2023-11-27 Morgan Bérard, Laura Martínez-Drudis, Razan Sheta, Omar M. A. El-Agnaf, Abid Oueslati
Alpha-synuclein (α-syn) aggregation into proteinaceous intraneuronal inclusions, called Lewy bodies (LBs), is the neuropathological hallmark of Parkinson’s disease (PD) and related synucleinopathies. However, the exact role of α-syn inclusions in PD pathogenesis remains elusive. This lack of knowledge is mainly due to the absence of optimal α-syn-based animal models that recapitulate the different
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Impaired Mitochondrial Respiration in REM-Sleep Behavior Disorder: A Biomarker of Parkinson's Disease? Mov. Disord. (IF 8.6) Pub Date : 2023-11-25 Gerardo Ongari, Cristina Ghezzi, Deborah Di Martino, Antonio Pisani, Michele Terzaghi, Micol Avenali, Enza Maria Valente, Silvia Cerri, Fabio Blandini
Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is associated with prodromal Parkinson's disease (PD), but the mechanisms linking phenoconversion of iRBD to PD have not yet been clarified. Considering the association between mitochondrial dysfunction and sleep disturbances in PD, we explored mitochondrial activity in fibroblasts derived from iRBD patients to identify a biochemical
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Charting Disease Trajectories from Isolated REM Sleep Behavior Disorder to Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-11-25 Cécile Di Folco, Raphaël Couronné, Isabelle Arnulf, Graziella Mangone, Smaranda Leu-Semenescu, Pauline Dodet, Marie Vidailhet, Jean-Christophe Corvol, Stéphane Lehéricy, Stanley Durrleman
Clinical presentation and progression dynamics are variable in patients with Parkinson's disease (PD). Disease course mapping is an innovative disease modelling technique that summarizes the range of possible disease trajectories and estimates dimensions related to onset, sequence, and speed of progression of disease markers.
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Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8 Mov. Disord. (IF 8.6) Pub Date : 2023-11-22 Patra Yeetong, Mohamed E. Dembélé, Monnat Pongpanich, Lassana Cissé, Chalurmpon Srichomthong, Alassane B. Maiga, Kékouta Dembélé, Adjima Assawapitaksakul, Salia Bamba, Abdoulaye Yalcouyé, Salimata Diarra, Samuel Ephrata Mefoung, Supphakorn Rakwongkhachon, Oumou Traoré, Siraprapa Tongkobpetch, Kenneth H. Fischbeck, William A. Gahl, Cheick O. Guinto, Vorasuk Shotelersuk, Guida Landouré
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by cortical tremors and seizures. Six types of BAFME, all caused by pentanucleotide repeat expansions in different genes, have been reported. However, several other BAFME cases remain with no molecular diagnosis.
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Correction to Excessive α-β Oscillations Mark Enlarged Motor Sign Severity and Parkinson's Disease Duration Mov. Disord. (IF 8.6) Pub Date : 2023-11-22
Belova E, Semenova U, Gamaleya A, Tomskiy A, Sedov A. Excessive α-β Oscillations Mark Enlarged Motor Sign Severity and Parkinson's Disease Duration. Mov Disord. 2023 Jun;38(6):1027–1035. doi: 10.1002/mds.29393. Epub 2023 Apr 6. PMID: 37025075. The affiliation numbers were assigned in wrong order. The right affiliations for the authors are as follows: Elena Belova1, Ulia Semenova1, Anna Gamaleya2, Alexey
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Shared Genetic Architecture between Parkinson's Disease and Brain Structural Phenotypes Mov. Disord. (IF 8.6) Pub Date : 2023-11-21 Dong-rui Ma, Shuang-jie Li, Jing-jing Shi, Yuan-yuan Liang, Zheng-wei Hu, Xiao-yan Hao, Meng-jie Li, Meng-nan Guo, Chun-yan Zuo, Wen-kai Yu, Cheng-yuan Mao, Mi-bo Tang, Chan Zhang, Yu-ming Xu, Jun Wu, Shi-lei Sun, Chang-he Shi
Patients with Parkinson's disease (PD) have consistently demonstrated brain structure abnormalities, indicating the presence of shared etiological and pathological processes between PD and brain structures; however, the genetic relationship remains poorly understood.
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Empirically derived psychosocial-behavioral phenotypes in Black/African American and Hispanic/Latino older adults enrolled in HABS-HD: Associations with AD biomarkers and cognitive outcomes Alzheimers Dement. (IF 14.0) Pub Date : 2023-11-22 Alexandra L. Clark, Kelsey R. Thomas, Nazareth Ortega, Andreana P. Haley, Audrey Duarte, Sid O'Bryant
Identification of psychosocial-behavioral phenotypes to understand within-group heterogeneity in risk and resiliency to Alzheimer's disease (AD) within Black/African American and Hispanic/Latino older adults is essential for the implementation of precision health approaches.
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Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease Brain (IF 14.5) Pub Date : 2023-11-25 Yaping Chu, Warren D Hirst, Howard J Federoff, Ashley S Harms, A Jon Stoessl, Jeffrey H Kordower
While Parkinson’s disease remains clinically defined by cardinal motor symptoms resulting from nigrostriatal degeneration, it is now appreciated that Parkinson’s disease commonly consists of multiple pathologies, but it is unclear where these co-pathologies occur early in disease and whether they are responsible for the nigrostriatal degeneration. For the past number of years, we have been studying
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Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes Nat. Rev. Neurol. (IF 38.1) Pub Date : 2023-11-24 Kathryn J. Peall, Michael J. Owen, Jeremy Hall
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Efficient transmission of human prion diseases to a glycan-free prion protein-expressing host Brain (IF 14.5) Pub Date : 2023-11-23 Laura Cracco, Ignazio Cali, Mark L Cohen, Rabail Aslam, Silvio Notari, Qingzhong Kong, Kathy L Newell, Bernardino Ghetti, Brian S Appleby, Pierluigi Gambetti
It is increasingly evident that the association of glycans with the prion protein (PrP), a major post-translational modification, significantly impacts the pathogenesis of prion diseases. A recent bioassay study has provided evidence that the presence of PrP glycans decreases spongiform degeneration (SD) and disease-related PrP (PrPD) deposition in a murine model. We challenged (PRNPN181Q/197Q) transgenic
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A tale of race and B cells in multiple sclerosis Nat. Rev. Neurol. (IF 38.1) Pub Date : 2023-11-21 Christopher M. Orlando, Lilyana Amezcua
A new study indicates that African American people with multiple sclerosis have higher markers of humoral disease pathology than white people with multiple sclerosis. However, apparent differences in pathophysiology between ethnic groups cannot be fully interpreted without more comprehensive studies that examine the effects of social inequality on disease.
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Teaching Video NeuroImage: Response to IVIg in a Patient With Steroid-Refractory Immune Checkpoint Inhibitor-Related Ocular Myopathy Neurology (IF 9.9) Pub Date : 2023-11-21 Sara J. Hooshmand, Catarina Aragon Pinto, Teerin Liewluck, Marcus V. Pinto
A 76-year-old woman with metastatic melanoma presented with a 3-day history of progressive diplopia approximately 3 weeks after her first ipilimumab and nivolumab therapy. Neurologic examination demonstrated bilateral nonfatigable ptosis and severe bilateral ophthalmoplegia without evidence of bulbar or neck weakness. Creatine kinase (CK) was 5213 U/L (normal:26-192). AChR and MuSK antibodies were
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Teaching Video NeuroImage: Seven-and-a-Half Syndrome Neurology (IF 9.9) Pub Date : 2023-11-21 Wei Li, Chanjuan Chen, Wengping Gu, Hong Tan
A 70-year-old man with a history of hypertension presented with sudden-onset dizziness, binocular horizontal diplopia, and crooked mouth. His blood pressure was 200/120 mm Hg. Neurologic examination revealed left internuclear ophthalmoplegia (INO) and left-sided peripheral facial palsy (Video 1). His pupillary accommodation reflex and binocular convergence reflection were intact. Head CT and susceptibility-weighted
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Clinical Reasoning: A Woman With Progressive Painless Sequential Monocular Vision Loss Neurology (IF 9.9) Pub Date : 2023-11-21 Joseph Ditrapani, Hayley Price, Christine Shrock, Shuodan Zhang, Patricia E. Greenstein, Marc Bouffard
A 68-year-old woman with a history of diabetes mellitus type 2, depression, and migraines presented with painless, acute, consecutive vision loss affecting the right eye for 1 week and the left eye for 2 weeks. Neuro-ophthalmic examination was notable for visual acuities of finger-counting peripherally, a central scotoma, anterior uveitis, vitritis, and placoid macular pigmentary changes in each eye
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Relevance of Minor Neuropsychological Deficits in Patients With Subjective Cognitive Decline Neurology (IF 9.9) Pub Date : 2023-11-21 Stark, M., Wolfsgruber, S., Kleineidam, L., Frommann, I., Altenstein, S., Bartels, C., Brosseron, F., Buerger, K., Burow, L., Butryn, M., Ewers, M., Fliessbach, K., Gabelin, T., Glanz, W., Goerss, D., Gref, D., Hansen, N., Heneka, M. T., Hinderer, P., Incesoy, E. I., Janowitz, D., Kilimann, I., Kimmich, O., Laske, C., Munk, M. H., Perneczky, R., Peters, O., Preis, L., Priller, J., Rauchmann, B.-S.
Background and Objectives To determine the relevance of minor neuropsychological deficits (MNPD) in patients with subjective cognitive decline (SCD) with regard to CSF levels of Alzheimer disease (AD) biomarkers, cognitive decline, and clinical progression to mild cognitive impairment (MCI). Methods This study included patients with clinical SCD and SCD-free, healthy control (HC) participants with
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Low- and High-Density Lipoprotein Cholesterol and Dementia Risk Over 17 Years of Follow-up Among Members of a Large Health Care Plan Neurology (IF 9.9) Pub Date : 2023-11-21 Ferguson, E. L., Zimmerman, S. C., Jiang, C., Choi, M., Swinnerton, K., Choudhary, V., Meyers, T. J., Hoffmann, T. J., Gilsanz, P., Oni-Orisan, A., Whitmer, R. A., Risch, N., Krauss, R. M., Schaefer, C. A., Glymour, M. M.
Background and Objectives The associations of high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) with dementia risk in later life may be complex, and few studies have sufficient data to model nonlinearities or adequately adjust for statin use. We evaluated the observational associations of HDL-C and LDL-C with incident dementia in a large and well-characterized
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Association of Sleep Disturbances With Brain Amyloid and Tau Burden, Cortical Atrophy, and Cognitive Dysfunction Across the AD Continuum Neurology (IF 9.9) Pub Date : 2023-11-21 So Hoon Yoon, Han-Kyeol Kim, Jae-Hoon Lee, Joong-Hyun Chun, Young H. Sohn, Phil Hyu Lee, Young Hoon Ryu, Hanna Cho, Han Soo Yoo, Chul Hyoung Lyoo
Background and Objectives Patients with Alzheimer disease (AD) frequently suffer from various sleep disturbances. However, how sleep disturbance is associated with AD and its progression remains poorly investigated. We investigated the association of total sleep time with brain amyloid and tau burden, cortical atrophy, cognitive dysfunction, and their longitudinal changes in the AD spectrum. Methods
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Adverse Childhood Experiences and Primary Headache Disorders: A Systematic Review, Meta-analysis, and Application of a Biological Theory Neurology (IF 9.9) Pub Date : 2023-11-21 Claudia Sikorski, Anna C. Mavromanoli, Karishma Manji, Danial Behzad, Catherine Kreatsoulas
Background and Objectives Headache disorders are among the leading causes of disability worldwide. While an association between adverse childhood experiences and primary headaches has been reported, the pooled magnitude across studies and pathways of the association are unknown. Our objectives were (1) to estimate the pooled effect of ≥1 adverse childhood experience (ACE) on primary headache disorders
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Weight Management Interventions for Adults With Idiopathic Intracranial Hypertension: A Systematic Review and Practice Recommendations Neurology (IF 9.9) Pub Date : 2023-11-21 Abbott, S., Chan, F., Tahrani, A. A., Wong, S. H., Campbell, F. E. J., Parmar, C., Pournaras, D. J., Denton, A., Sinclair, A. J., Mollan, S. P.
Background and Objectives Idiopathic intracranial hypertension (IIH) is associated with obesity; however, there is a lack of clinical consensus on how to manage weight in IIH. The aim of this systematic review was to evaluate weight loss interventions in people with IIH to determine which intervention is superior in terms of weight loss, reduction in intracranial pressure (ICP), benefit to visual and
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Factors Associated With Fast Early Infarct Growth in Patients With Acute Ischemic Stroke With a Large Vessel Occlusion Neurology (IF 9.9) Pub Date : 2023-11-21 Pierre Seners, Nicole Yuen, Jean-Marc Olivot, Michael Mlynash, Jeremy J. Heit, Soren Christensen, José Bernardo Escribano-Paredes, Emmanuel Carrera, Davide Strambo, Patrik Michel, Alexander Salerno, Max Wintermark, Hui Chen, Jean-François Albucher, Christophe Cognard, Igor Sibon, Michael Obadia, Julien Savatovsky, Maarten G. Lansberg, Gregory W. Albers, for Mismatch Prevalence
Background and Objectives The optimal methods for predicting early infarct growth rate (EIGR) in acute ischemic stroke with a large vessel occlusion (LVO) have not been established. We aimed to study the factors associated with EIGR, with a focus on the collateral circulation as assessed by the hypoperfusion intensity ratio (HIR) on perfusion imaging, and determine whether the associations found are
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Single Nucleotide Polymorphisms Associated With Motor Recovery in Patients With Nondisabling Stroke: GWAS Study Neurology (IF 9.9) Pub Date : 2023-11-21 Chad M. Aldridge, Robynne Braun, Keith L. Keene, Fang-Chi Hsu, Bradford B. Worrall
Background and Objectives Despite notable advances in genetic understanding of stroke recovery, most studies focus only on candidate genes. To date, only 2 genome-wide association studies (GWAS) have focused on stroke outcomes, but they were limited to the modified Rankin Scale (mRS). The mRS maps poorly to biological processes. Therefore, we performed a GWAS to discover single nucleotide polymorphisms
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Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures Neurology (IF 9.9) Pub Date : 2023-11-21 Valerie Aponte Ribero, Yasmina Martí, Sarah Batson, Stephen Mitchell, Ksenija Gorni, Nicole Gusset, Maryam Oskoui, Laurent Servais, C. Simone Sutherland
Background and Objectives Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with continuous motor function loss and complications, such as scoliosis and contractures. Understanding the natural history of SMA is key to demonstrating the long-term outcomes of SMA treatments. This study reviews the natural history of motor function, scoliosis, and contractures in patients
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Risk of Guillain-Barre Syndrome Following COVID-19 Vaccines: A Nationwide Self-Controlled Case Series Study Neurology (IF 9.9) Pub Date : 2023-11-21 Stéphane Le Vu, Marion Bertrand, Jérémie Botton, Marie-Joelle Jabagi, Jérôme Drouin, Laura Semenzato, Alain Weill, Rosemary Dray-Spira, Mahmoud Zureik
Background and Objectives Guillain-Barré syndrome (GBS) has been inconsistently associated with some coronavirus disease 2019 (COVID-19) vaccines. We aimed to quantify the risk of GBS according to the type of COVID-19 vaccine in a large population. Methods Using the French National Health Data System linked to the COVID-19 vaccine database, we analyzed all individuals aged 12 years or older admitted
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Nationwide Retrospective Analysis of Combinations of Advanced Therapies in Patients With Parkinson Disease Neurology (IF 9.9) Pub Date : 2023-11-21 Pürner, D., Hormozi, M., Weiss, D., Barbe, M. T., Jergas, H., Prell, T., Gülke, E., Pötter-Nerger, M., Falkenburger, B., Klingelhöfer, L., Gutsmiedl, P. K., Haslinger, B., Jochim, A. M., Wolff, A., Schröter, N., Rijntjes, M., van Riesen, C., Scheller, U., Wolz, M., Amouzandeh, A., Ebersbach, G., Gruber, D., Kohl, Z., Maetzler, W., Paschen, S., Perez-Gonzalez, P., Rozanski, V., Schwarz, J., Südmeyer
Background and Objectives Advanced therapies (ATs; deep brain stimulation [DBS] or pump therapies: continuous subcutaneous apomorphine infusion [CSAI], levodopa/carbidopa intestinal gel [LCIG]) are used in later stages of Parkinson disease (PD). However, decreasing efficacy over time and/or side effects may require an AT change or combination in individual patients. Current knowledge about changing