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JOURNAL ARTICLE
Kevin K Noguchi, Cory W Palmer, Nicole A Fuhler, Eric Neblock, Maya Fotedar, Chrysanthy Ikonomidou
Many antiseizure medications cause apoptotic cell death in developing brains. The newer antiseizure medication lacosamide is increasingly used in neonates and infants. Neurotoxicity of lacosamide and its combination with levetiracetam was studied in neonatal mice. Animals received single or repeat injections of saline, phenobarbital (75mg/kg), lacosamide (20-40mg/kg), levetiracetam (100mg/kg), lacosamide (40mg/kg) + levetiracetam (100mg/kg) and euthanized at 6 to 30 hours. Cells undergoing apoptosis were increased in the brains of phenobarbital-treated animals...
August 13, 2024: Annals of Neurology
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JOURNAL ARTICLE
Lan Wen, Yan Huang, Zhifu Song, Chaohua Wang
No abstract text is available yet for this article.
August 8, 2024: Annals of Neurology
#23
JOURNAL ARTICLE
Mohit Neema, Jordan L Schultz, Douglas R Langbehn, Amy L Conrad, Eric A Epping, Vincent A Magnotta, Peggy C Nopoulos
OBJECTIVE: Huntington's disease (HD) is a neurodegenerative disease caused by a triplet repeat expansion within the gene huntingtin (HTT). Antagonistic pleiotropy is a theory of aging that posits that some genes, facilitating individual fitness early in life through adaptive evolutionary changes, also augment detrimental aging-related processes. Antagonistic pleiotropy theory may explain a positive evolutionary pressure toward functionally advantageous brain development that is vulnerable to rapid degeneration...
August 8, 2024: Annals of Neurology
#24
JOURNAL ARTICLE
S Andrew Josephson, Michael S Tennekoon, S Thomas Carmichael, Sydney S Cash, John A Detre, Argye E Hillis, Page B Pennell, Scott L Pomeroy, George B Richerson, Lauren H Sansing, Stephen J Korn
OBJECTIVE: Training clinician-scientists is a primary objective of many academic neurology departments, as these individuals are uniquely positioned to perform insightful clinical or laboratory-based research informed both by clinical knowledge and their own experiences caring for patients. Despite its importance, training clinician-scientists has perhaps never been so challenging. The National Institute of Neurologic Disorders and Stroke (NINDS) R25 program was designed in an attempt to support these individuals, decrease the time needed to obtain National Institutes of Health K awards, and to help educate a cohort of trainees preparing for a career in academic neurology...
August 5, 2024: Annals of Neurology
#25
JOURNAL ARTICLE
Arnau Puig-Davi, Saul Martinez-Horta, Laura Pérez-Carasol, Andrea Horta-Barba, Iñigo Ruiz-Barrio, Ignacio Aracil-Bolaños, Rocío Pérez-González, Elisa Rivas-Asensio, Frederic Sampedro, Antonia Campolongo, Javier Pagonabarraga, Jaime Kulisevsky
OBJECTIVE: Cognitive impairment in Parkinson's disease (PD) can show a very heterogeneous trajectory among patients. Here, we explored the mechanisms involved in the expression and prediction of different cognitive phenotypes over 4 years. METHODS: In 2 independent cohorts (total n = 475), we performed a cluster analysis to identify trajectories of cognitive progression. Baseline and longitudinal level II neuropsychological assessments were conducted, and baseline structural magnetic resonance imaging, resting electroencephalogram and neurofilament light chain plasma quantification were carried out...
August 5, 2024: Annals of Neurology
#26
JOURNAL ARTICLE
Teije H van Prooije, Kirsten C J Kapteijns, Jack J A van Asten, Joanna IntHout, Marcel M Verbeek, Tom W J Scheenen, Bart P van de Warrenburg
OBJECTIVES: Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant neurodegenerative disease. Objective surrogate markers sensitive to detect changes in disease severity are needed to reduce sample sizes in interventional trials and identification of predictors of faster disease progression would facilitate patient selection, enrichment, or stratification in such trials. METHODS: We performed a prospective 1-year longitudinal, multimodal study in 34 ataxic SCA1 individuals and 21 healthy controls...
August 3, 2024: Annals of Neurology
#27
JOURNAL ARTICLE
Ting-Yu Su, Joon Yul Choi, Siyuan Hu, Xiaofeng Wang, Ingmar Blümcke, Katherine Chiprean, Balu Krishnan, Zheng Ding, Ken Sakaie, Hiroatsu Murakami, Andreas V Alexopoulos, Imad Najm, Stephen E Jones, Dan Ma, Zhong Irene Wang
OBJECTIVES: To develop a multiparametric machine-learning (ML) framework using high-resolution 3 dimensional (3D) magnetic resonance (MR) fingerprinting (MRF) data for quantitative characterization of focal cortical dysplasia (FCD). MATERIALS: We included 119 subjects, 33 patients with focal epilepsy and histopathologically confirmed FCD, 60 age- and gender-matched healthy controls (HCs), and 26 disease controls (DCs). Subjects underwent whole-brain 3 Tesla MRF acquisition, the reconstruction of which generated T1 and T2 relaxometry maps...
August 3, 2024: Annals of Neurology
#28
JOURNAL ARTICLE
Shiwei Lin, Meifen Guo, Qunjun Liang, Xiaoshan Lin, Shengli Chen, Ying Li, Peiqi Chen, Yingwei Qiu
OBJECTIVE: Glymphatic system is a recently discovered macroscopic waste clearance system associated with numerous neurological diseases. However, little is known about glymphatic system development in neonates. We sought to evaluate diffusion along the perivascular space (ALPS) index, a proxy for glymphatic system function, in neonates and investigate its potential associations with maturation, sex, and preterm birth. METHODS: Diffusion magnetic resonance imaging (MRI) data in 418 neonates, including 92 preterm neonates (57 males) and 326 term neonates (175 males), from the Developing Human Connectome Project were used for evaluating ALPS index...
August 3, 2024: Annals of Neurology
#29
JOURNAL ARTICLE
Jun Liu, Si Zhang, Hua Guo
No abstract text is available yet for this article.
August 2, 2024: Annals of Neurology
#30
JOURNAL ARTICLE
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Michele G Mehaffey, Amy J LaCroix, Jayne Antony, Richard Webster, Michael Cardamone, Gopinath M Subramanian, Annie T G Chiu, Eugenia Roza, Raluca I Teleanu, Stephen Malone, Richard J Leventer, Deepak Gill, Samuel F Berkovic, Michael S Hildebrand, Beatrice S Goad, Katherine B Howell, Joseph D Symonds, Andreas Brunklaus, Lynette G Sadleir, Sameer M Zuberi, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS). METHODS: All patients fulfilled International League Against Epilepsy (ILAE) DEE-SWAS or EE-SWAS criteria with a Core cohort (n = 91) drawn from our Epilepsy Genetics research program, together with 10 etiologically solved patients referred by collaborators in the Expanded cohort (n = 101)...
August 2, 2024: Annals of Neurology
#31
JOURNAL ARTICLE
Sofie Sunebo, Hanna Appelqvist, Bo Häggqvist, Olof Danielsson
OBJECTIVE: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a disorder of fatty acid oxidation and considered an inborn error of metabolism. In recent years, we have diagnosed an increasing number of patients where, despite extensive investigation, no disease-causing mutations have been found. We therefore investigated a cohort of consecutive patients, with the objective to detect possible non-genetic causes. METHODS: We searched the patient records and the registry of muscle biopsies, for patients with MADD, diagnosed within the past 10 years...
August 2, 2024: Annals of Neurology
#32
JOURNAL ARTICLE
Jiabao Yang, Zhikai Hou, Jianjun Tan, Ning Ma
No abstract text is available yet for this article.
July 31, 2024: Annals of Neurology
#33
JOURNAL ARTICLE
Fulya Akçimen, Ruth Chia, Sara Saez-Atienzar, Paola Ruffo, Memoona Rasheed, Jay P Ross, Calwing Liao, Anindita Ray, Patrick A Dion, Sonja W Scholz, Guy A Rouleau, Bryan J Traynor
OBJECTIVE: Restless legs syndrome (RLS) is a neurological condition that causes uncomfortable sensations in the legs and an irresistible urge to move them, typically during periods of rest. The genetic basis and pathophysiology of RLS are incompletely understood. We sought to identify additional novel genetic risk factors associated with RLS susceptibility. METHODS: We performed a whole-genome sequencing and genome-wide association meta-analysis of RLS cases (n = 9,851) and controls (n = 38,957) in 3 population-based biobanks (All of Us, Canadian Longitudinal Study on Aging, and CARTaGENE)...
July 30, 2024: Annals of Neurology
#34
JOURNAL ARTICLE
Paola Dimartino, Mariia Zadorozhna, Verónica Yumiceba, Anna Basile, Ilaria Cani, Uirá Souto Melo, Jana Henck, Marjolein Breur, Caterina Tonon, Raffaele Lodi, Alfredo Brusco, Tommaso Pippucci, Foteini-Dionysia Koufi, Elisa Boschetti, Giulia Ramazzotti, Lucia Manzoli, Stefano Ratti, Filippo Pinto E Vairo, Martin B Delatycki, Giovanna Vaula, Pietro Cortelli, Marianna Bugiani, Malte Spielmann, Elisa Giorgio
OBJECTIVES: We aimed to elucidate the pathogenic mechanisms underlying autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), and to understand the genotype/phenotype correlation of structural variants (SVs) in the LMNB1 locus. BACKGROUND: Since the discovery of 3D genome architectures and topologically associating domains (TADs), new pathomechanisms have been postulated for SVs, regardless of gene dosage changes. ADLD is a rare genetic disease associated with duplications (classical ADLD) or noncoding deletions (atypical ADLD) in the LMNB1 locus...
July 30, 2024: Annals of Neurology
#35
JOURNAL ARTICLE
Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, Mervyn G Thomas, Tahir N Khan, Hammad Yousaf, Cindy Skinner, Gail Maconachie, Moira Crosier, Holli Horak, Cris S Constantinescu, Tae-Yoon Kim, Kang-Han Lee, Jae-Jun Kyung, Tao Wang, Bonsu Ku, Bernard N Chodirker, Michael F Hammer, Irene Gottlob, William H J Norton, Robert Gerlai, Hyung-Goo Kim, Claudio Graziano, Tommaso Pippucci, Emanuela Iovino, Francesca Montanari, Giulia Severi, Camilo Toro, Cornelius F Boerkoel, Hyo Sun Cha, Cheol Yong Choi, Sungjin Kim, Je-Hyun Yoon, Kelly Gilmore, Neeta L Vora, Erica E Davis, Albert E Chudley, Charles E Schwartz, Cheol-Hee Kim
OBJECTIVE: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these disorders caused by genetic defects on the X chromosome, affecting about 2 out of 1,000 males. In syndromic form, it leads to a broad range of cognitive, behavioral, ocular, and physical disabilities. METHODS: Employing exome or genome sequencing, here we identified 4 missense variants (c...
July 29, 2024: Annals of Neurology
#36
JOURNAL ARTICLE
Eric L Stulberg, Lynda Lisabeth, Andrea L C Schneider, Lesli Skolarus, Kiarri N Kershaw, Alexander R Zheutlin, Benjamin R E Harris, Daniel Sarpong, Ka-Ho Wong, Kevin N Sheth, Adam de Havenon
Socioeconomic status (SES) is a multi-faceted theoretical construct associated with stroke risk and outcomes. Knowing which SES measures best correlate with population stroke metrics would improve its accounting in observational research and inform interventions. Using the Centers for Disease Control and Prevention's (CDC) Population Level Analysis and Community Estimates (PLACES) and other publicly available databases, we conducted an ecological study comparing correlations of different United States county-level SES, health care access and clinical risk factor measures with age-adjusted stroke prevalence...
July 26, 2024: Annals of Neurology
#37
JOURNAL ARTICLE
Mariano Marrodan, Ismael L Calandri, Diana I Bocancea, Maria C Ysrraelit, Enrique Gomez Figueroa, Montserrat Massó Páez, José D J Flores, Juan I Rojas, Ethel Ciampi, Pablo Ioli, Gisela Zanga, Carolina Ardohain, Maria E Fracaro, Mariela Amaya, Verónica Tkachuk, Victoria C Fernandez, Gustavo José, Emanuel Silva, Geraldine Luetic, Edgar Carnero Contentti, Eduardo Köhler, Fatima Pagani Cassara, Dolores Moran, Carla Seimandi, Juan P Paviolo, Brenda D'elio, Gustavo Da Prat, Emilia Gatto, Edgardo Cristiano, Virginia Pujol Lereis, Sebastian F Ameriso, Marcela P Fiol, Jorge Correale
OBJECTIVE: Susac syndrome (SuS), multiple sclerosis (MS), and primary angiitis of the central nervous system (PACNS) present diagnostic challenges due to overlapping clinical features. We aimed to enhance diagnostic precision by developing the SPAMS (SuS, PACNS, MS) score, a practical radiological tool. METHODS: This multicenter study included 99 patients (43 SuS, 37 MS, 19 PACNS) from South American countries. Relevant MRI features were identified through an elastic-net model determined key variables...
July 26, 2024: Annals of Neurology
#38
REVIEW
Antonio Scalfari, Anthony Traboulsee, Jiwon Oh, Laura Airas, Stefan Bittner, Massimiliano Calabrese, Jose Manuel Garcia Dominguez, Cristina Granziera, Benjamin Greenberg, Kerstin Hellwig, Zsolt Illes, Jan Lycke, Veronica Popescu, Francesca Bagnato, Gavin Giovannoni
Despite therapeutic suppression of relapses, multiple sclerosis (MS) patients often experience subtle deterioration, which extends beyond the definition of "progression independent of relapsing activity." We propose the concept of smouldering-associated-worsening (SAW), encompassing physical and cognitive symptoms, resulting from smouldering pathological processes, which remain unmet therapeutic targets. We provide a consensus-based framework of possible pathological substrates and manifestations of smouldering MS, and we discuss clinical, radiological, and serum/cerebrospinal fluid biomarkers for potentially monitoring SAW...
July 25, 2024: Annals of Neurology
#39
JOURNAL ARTICLE
Deep K Pujara, M Shazam Hussain, Michael G Abraham, Santiago Ortega-Gutierrez, Michael Chen, Scott E Kasner, Leonid Churilov, Clark W Sitton, Spiros Blackburn, Sophia Sundararajan, Yin C Hu, Nabeel A Herial, Ronald F Budzik, William J Hicks, Juan F Arenillas, Jenny P Tsai, Osman Kozak, Dennis J Cordato, Nathan W Manning, Ricardo A Hanel, Amin N Aghaebrahim, Teddy Y Wu, Pere Cardona Portela, Natalia Pérez de la Ossa, Joanna D Schaafsma, Jordi Blasco, Navdeep Sangha, Steven Warach, Chirag D Gandhi, Fawaz Al-Mufti, Timothy J Kleinig, Faisal Al-Shaibi, Kelsey R Duncan, Faris Shaker, Hannah Johns, Wei Xiong, Michael DeGeorgia, Amanda Opaskar, Jeffery Sunshine, Abhishek Ray, Pascal Jabbour, Nicholas Bambakidis, Cathy Sila, Thanh N Nguyen, James C Grotta, Ameer E Hassan, Marc Ribo, Michael D Hill, Bruce C Campbell, Amrou Sarraj
Endovascular thrombectomy (EVT) safety and efficacy in patients with large core infarcts receiving oral anticoagulants (OAC) are unknown. In the SELECT2 trial (NCT03876457), 29 of 180 (16%; vitamin K antagonists 15, direct OACs 14) EVT, and 18 of 172 (10%; vitamin K antagonists 3, direct OACs 15) medical management (MM) patients reported OAC use at baseline. EVT was not associated with better clinical outcomes in the OAC group (EVT 6 [4-6] vs MM 5 [4-6], adjusted generalized odds ratio 0.89 [0.53-1.50]), but demonstrated significantly better outcomes in patients without OAC (EVT 4 [3-6] vs MM 5 [4-6], adjusted generalized odds ratio 1...
July 22, 2024: Annals of Neurology
#40
JOURNAL ARTICLE
Katherine Czerpaniak, Leandro Flores do Nascimento, Tingting Guo, Jintao Zhang, Xuemei Liu, Mojdeh Sarzaeim, Zachary D Fine, Yu-Qing Cao
OBJECTIVE: Despite the high prevalence, mild traumatic brain injury (mTBI)-induced chronic headache and cognitive deficits are poorly understood and lack effective treatments. Low-dose interleukin-2 (LD-IL-2) treatment soon after mTBI or overexpressing IL-2 in brain astrocytes prior to injury protects mice from developing post-traumatic headache (PTH)-related behaviors and cognitive decline. The present study addresses a clinically relevant knowledge gap: whether LD-IL-2 treatment long after the initial injury is still effective for chronic PTH and cognitive deficits...
July 20, 2024: Annals of Neurology
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