journal
https://read.qxmd.com/read/37776102/pivotal-role-of-slitrk1-in-adult-striatal-cholinergic-neurons-in-mice-implication-in-tourette-syndrome
#1
JOURNAL ARTICLE
Jung-Chieh Du, Man-Hsin Chang, Chen-Jiun Yeh, Ming Tatt Lee, Hsin-Jung Lee, Shu-Hui Chuang, Lih-Chu Chiou
The SLIT and NTRK-like 1 (SLITRK1) gene mutation and striatal cholinergic interneurons (ChIs) loss are associated with Tourette syndrome (TS). ChIs comprise only 1-2% of total neurons but send dense arbors of fibers in the stratum, making it the most ACh-abundant brain region. Here, mice receiving Slitrk1 siRNA bilateral microinjection in the dorsal striatum, Slitrk1-knockdown (KD) mice, exhibit TS-like haloperidol-sensitive stereotypic tic behaviors and impaired prepulse inhibition, as well as delayed sensorimotor response, compared with scrambled siRNA-treated controls...
September 30, 2023: Annals of Neurology
https://read.qxmd.com/read/37767955/interventional-therapy-of-cobb-syndrome-spinal-arteriovenous-metameric-syndrome
#2
JOURNAL ARTICLE
Xitao Yang, Lixin Su, Deming Wang, Yuchen Shen
No abstract text is available yet for this article.
September 28, 2023: Annals of Neurology
https://read.qxmd.com/read/37755722/recognizing-and-responding-to-the-needs-of-future-child-and-adult-neurology-care-through-the-evolution-of-residency-training
#3
JOURNAL ARTICLE
Justin Charles McArthur, Erika F Augustine, S Thomas Carmichael, Donna M Ferriero, Frances E Jensen, Shafali S Jeste, Lori C Jordan, Rafael H Llinas, Bradley L Schlaggar, Lisa R Sun, Scott L Pomeroy
Recent insights into the frequency of occurrence and the genetic and mechanistic basis of nervous system disease have demonstrated that neurologic disorders occur as a spectrum across all ages. To meet future needs of patients with neurologic disease of all ages and prepare for increasing implementaton of precision therapies, greater integration of child and adult neurology residency training is needed. This article is protected by copyright. All rights reserved.
September 27, 2023: Annals of Neurology
https://read.qxmd.com/read/37753809/a-genetic-risk-variant-for-multiple-sclerosis-severity-is-associated-with-brain-atrophy
#4
JOURNAL ARTICLE
Christiane Gasperi, Tun Wiltgen, Julian McGinnis, Stefano Cerri, Thomas Moridi, Russell Ouellette, Albert Pukaj, Cuici Voon, Cemsel Bafligil, Markus Lauerer, Till F M Andlauer, Friederike Held, Lilian Aly, Klementy Shchetynsky, Pernilla Stridh, Adil Harroud, Benedikt Wiestler, Jan S Kirschke, Claus Zimmer, Aris Baras, Fredrik Piehl, Achim Berthele, Tobias Granberg, Ingrid Kockum, Bernhard Hemmer, Mark Mühlau
The minor allele of the genetic variant rs10191329 in the DYSF-ZNF638 locus is associated with unfavorable long-term clinical outcome in multiple sclerosis. We investigated if rs10191329 is associated with brain atrophy measured by magnetic resonance imaging in a discovery cohort of 748 and a replication cohort of 360 people with relapsing multiple sclerosis. We observed an association with 28% more brain atrophy per rs10191329*A allele. Our results encourage stratification for rs10191329 in clinical trials...
September 27, 2023: Annals of Neurology
https://read.qxmd.com/read/37731004/higher-procedural-volumes-are-associated-with-faster-treatment-times-better-functional-outcomes-and-lower-mortality-in-patients-undergoing-endovascular-treatment-for-acute-ischemic-stroke
#5
JOURNAL ARTICLE
Raul G Nogueira, Diogo C Haussen, Eric E Smith, Jie-Lena Sun, Ying Xian, Brooke Alhanti, Rosalia Blanco, Brian Mac Grory, Mohamed F Doheim, Deepak L Bhatt, Gregg C Fonarow, Ameer E Hassan, Raed A Joundi, J Mocco, Michael R Frankel, Lee H Schwamm
OBJECTIVE: We aimed to characterize the association of hospital procedural volumes with outcomes among acute ischemic stroke (AIS) patients undergoing endovascular therapy (EVT). METHODS: This was a retrospective, observational cohort study using data prospectively collected from January 1, 2016, to December 31, 2019, in the Get With The Guidelines-Stroke registry. Participants were derived from a cohort of 60,727 AIS patients treated with EVT within 24 hours at 626 hospitals...
September 20, 2023: Annals of Neurology
https://read.qxmd.com/read/37726933/edema-reduction-versus-penumbra-salvage-investigating-treatment-effects-of-mechanical-thrombectomy-in-ischemic-stroke
#6
JOURNAL ARTICLE
Gabriel Broocks, Andre Kemmling, Helge Kniep, Lukas Meyer, Tobias D Faizy, Uta Hanning, Leander D Rimmele, Susan Klapproth, Gerhard Schön, Kamil Zeleňák, Jens Fiehler, Rosalie McDonough
OBJECTIVE: Mechanical thrombectomy (MT) is of benefit to patients with ischemic stroke; however, the effect of recanalization on lesion pathophysiology is not yet well understood. The aim of this study was to quantitatively assess how the effect of vessel recanalization on clinical outcome is mediated by edema reduction versus penumbra salvage. METHODS: Consecutive analysis of anterior circulation ischemic stroke patients triaged by multimodal-CT undergoing MT. Edema reduction was defined using the difference of quantitative net water uptake (NWU) determined on baseline and follow-up CT (∆NWU)...
September 19, 2023: Annals of Neurology
https://read.qxmd.com/read/37715256/divergent-causes-and-convergent-mechanisms-of-sudep
#7
JOURNAL ARTICLE
George B Richerson
No abstract text is available yet for this article.
September 15, 2023: Annals of Neurology
https://read.qxmd.com/read/37714824/deep-brain-stimulation-for-refractory-status-dystonicus-in-children-multi-centre-case-series-and-systematic-review
#8
JOURNAL ARTICLE
Lindsey M Vogt, Han Yan, Brendan Santyr, Sara Breitbart, Melanie Anderson, Jürgen Germann, Karlo J Lizarraga, Angela L Hewitt, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky
OBJECTIVE: We sought to better understand the workflow, outcomes, and complications of deep brain stimulation (DBS) for pediatric status dystonicus (SD). We present a systematic review, alongside a multi-center case series of pediatric patients with SD treated with DBS. METHODS: We collected individual data regarding treatment, stimulation parameters, and dystonia severity for a multi-center case series (n=8) and all previously published cases (n=77). Data for case series was used to create probabilistic voxel-wise maps of stimulated tissue associated with dystonia improvement...
September 15, 2023: Annals of Neurology
https://read.qxmd.com/read/37712215/the-differing-effects-of-sleep-on-ictal-and-interictal-network-dynamics-in-drug-resistant-epilepsy
#9
JOURNAL ARTICLE
Sana Hannan, John Thomas, Kassem Jaber, Charbel El Kosseifi, Alyssa Ho, Chifaou Abdallah, Tamir Avigdor, Jean Gotman, Birgit Frauscher
OBJECTIVE: Sleep has important influences on focal interictal epileptiform discharges (IEDs), and the rates and spatial extent of IEDs are increased in non-rapid eye movement (NREM) sleep. In contrast, the influence of sleep on seizures is less clear and its effects on seizure topography are poorly documented. We evaluated the influences of NREM sleep on ictal spatiotemporal dynamics and contrasted these with interictal network dynamics. METHODS: We included patients with drug-resistant focal epilepsy who underwent continuous intracranial EEG with depth electrodes...
September 15, 2023: Annals of Neurology
https://read.qxmd.com/read/37706575/convergence-of-visual-and-motor-awareness-in-human-parietal-cortex
#10
JOURNAL ARTICLE
Elena Monai, Lorenzo Pini, Federica Palacino, Marta Bisio, Francesca Bernocchi, Alessandro Salvalaggio, Maurizio Corbetta
OBJECTIVE: Brain lesions sometimes induce a failure of recognition of one's own deficits (anosognosia). Lack of deficit awareness may underlie damage of modality-specific systems, e.g., visual cortex for visual anosognosia or motor/premotor cortex for motor anosognosia. However, focal lesions induce widespread remote structural and functional disconnection, and anosognosia, independent of modality, may also involve common neural mechanisms. METHODS: Here, we study the neural correlates of Anton syndrome (AS), anosognosia of blindness, and compare them with anosognosia for hemiplegia to test if they share different or common mechanisms...
September 14, 2023: Annals of Neurology
https://read.qxmd.com/read/37706569/intensive-blood-pressure-reduction-is-associated-with-reduced-hematoma-growth-in-fast-bleeding-intracerebral-hemorrhage-a-secondary-analysis-of-the-atach-2-randomized-clinical-trial
#11
JOURNAL ARTICLE
Qi Li, Andrea Morotti, Andrew Warren, Adnan I Qureshi, Dar Dowlatshahi, Guido Falcone, Kevin N Sheth, Ashkan Shoamanesh, Santosh B Murthy, Anand Viswanathan, Joshua N Goldstein
OBJECTIVE: Spontaneous intracerebral hemorrhage (ICH) patients at highest risk of hematoma growth are those with the most potential to benefit from anti-expansion treatment. Large clinical trials have not definitively shown a clear benefit of blood pressure (BP) reduction. We aim to determine whether intensive blood pressure reduction could benefit patients with fast bleeding ICH. METHODS: An exploratory analysis of data from the Antihypertensive Treatment of Acute Cerebral Hemorrhage 2 (ATACH-2) randomized controlled trial was performed...
September 14, 2023: Annals of Neurology
https://read.qxmd.com/read/37706347/behavioral-and-cognitive-outcomes-of-rhesus-macaques-following-neonatal-exposure-to-antiseizure-medications
#12
JOURNAL ARTICLE
Ricki Colman, Peter Pierre, Julie Adriansjach, Kristin Crosno, Kevin K Noguchi, Chrysanthy Ikonomidou
OBJECTIVE: Exposure of neonatal macaques to the antiseizure medications phenobarbital and midazolam (PbM) causes widespread apoptotic death of neurons and oligodendrocytes. We studied behavior and neurocognitive performance in 12-24mo-old macaques treated as neonates with PbM. METHODS: Fourteen monkeys received phenobarbital and midazolam over 24hrs under normothermia (n=8) or mild hypothermia (n=6). Controls (n=8) received no treatment. Animals underwent testing in the human intruder paradigm at ages 12 and 18mo, and a 3-step stimulus discrimination task (SDT) at ages 12, 18, and 24mo...
September 14, 2023: Annals of Neurology
https://read.qxmd.com/read/37706277/sars1-serrs-causing-de-novo-dominant-charcot-marie-tooth-disease-with-slow-conduction
#13
LETTER
Christopher J Record, Mariola Skorupinksa, Stephan Zuchner, Julian Blake, Mary M Reilly
No abstract text is available yet for this article.
September 14, 2023: Annals of Neurology
https://read.qxmd.com/read/37705507/mog-antibodies-in-adults-with-a-first-demyelinating-event-suggestive-of-multiple-sclerosis
#14
JOURNAL ARTICLE
Javier Villacieros-Álvarez, Carmen Espejo, Georgina Arrambide, Mireia Castillo, Pere Carbonell-Mirabent, Marta Rodriguez, Luca Bollo, Joaquín Castilló, Manuel Comabella, Ingrid Galán, Luciana Midaglia, Neus Mongay, Carlos Nos, Jordi Rio, Breogan Rodríguez-Acevedo, Jaume Sastre-Garriga, Carmen Tur, Angela Vidal-Jordana, Andreu Vilaseca, Ana Zabalza, Cristina Auger, Alex Rovira, Xavier Montalban, Mar Tintoré, Álvaro Cobo-Calvo
OBJECTIVE: MOG antibodies (MOG-Ab) distinguish multiple sclerosis (MS) from MOG-associated disease (MOGAD) in most cases. However, studies analyzing MOG-Ab at the time of a first demyelinating event suggestive of MS in adults are lacking. We aimed to 1) evaluate the prevalence of MOG-Ab in a first demyelinating event suggestive of MS, and 2) compare clinical and paraclinical features between seropositive (MOG-Ab+) and seronegative (MOG-Ab-) patients. METHODS: 630 adult patients with available serum samples obtained within 6 months from the first event were included...
September 14, 2023: Annals of Neurology
https://read.qxmd.com/read/37703428/altered-brain-energy-metabolism-related-to-astrocytes-in-alzheimer-s-disease
#15
JOURNAL ARTICLE
Kosei Hirata, Kiwamu Matsuoka, Kenji Tagai, Hironobu Endo, Harutsugu Tatebe, Maiko Ono, Naomi Kokubo, Asaka Oyama, Hitoshi Shinotoh, Takahata Keisuke, Takayuki Obata, Masoumeh Dehghani, Jamie Near, Kazunori Kawamura, Ming-Rong Zhang, Hitoshi Shimada, Takanori Yokota, Takahiko Tokuda, Makoto Higuchi, Yuhei Takado
OBJECTIVE: Increasing evidence suggests that reactive astrocytes are associated with Alzheimer's disease (AD). However, its underlying pathogenesis remains unknown. Given the role of astrocytes in energy metabolism, reactive astrocytes may contribute to altered brain energy metabolism. Astrocytes are primarily considered glycolytic cells, suggesting a preference for lactate production. This study aimed to examine alterations in astrocytic activities and their association with brain lactate levels in AD...
September 13, 2023: Annals of Neurology
https://read.qxmd.com/read/37703427/reply-to-sars1-serrs-causing-de-novo-dominant-charcot-marie-tooth-disease-with-slow-conduction
#16
LETTER
Jin He, Xiao-Xuan Liu, Dong-Sheng Fan, Wan-Jin Chen
No abstract text is available yet for this article.
September 13, 2023: Annals of Neurology
https://read.qxmd.com/read/37695206/clinical-phenotype-of-paediatric-and-adult-patients-with-spinal-muscular-atrophy-with-4-smn2-copies-are-they-really-all-stable
#17
JOURNAL ARTICLE
Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Filosto, Giacomo P Comi, Stefania Corti, Dario Ronchi, Lorenzo Maggi, Maria G D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S Ricci, Angela L Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri
OBJECTIVE: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. METHODS: Clinical phenotypes were analysed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for SMA. RESULTS: The cohort includes 169 patients (102 males/67 females) with confirmed 4 SMN2 copies (mean age at last follow-up: 36.9+19years). Six of the 169 were presymptomatic, 8 were classified as type II, 145 as Type III, (38 type IIIA/107 type IIIB) and 8 as type IV...
September 11, 2023: Annals of Neurology
https://read.qxmd.com/read/37691087/brainstem-ischemic-syndrome-in-nf2-related-schwannomatosis
#18
JOURNAL ARTICLE
Samuele Bonomi, Amjad Samara, Tina Kiguradze, S Richard Dunham
No abstract text is available yet for this article.
September 10, 2023: Annals of Neurology
https://read.qxmd.com/read/37688469/a-pediatric-case-of-aspergillus-flavus-meningoencephalitis
#19
JOURNAL ARTICLE
Xuanqi Xu, Jie Deng, Yibing Cheng
No abstract text is available yet for this article.
September 9, 2023: Annals of Neurology
https://read.qxmd.com/read/37679306/hurler-syndrome-glycosaminoglycans-decrease-in-cerebrospinal-fluid-without-brain-targeted-therapy
#20
JOURNAL ARTICLE
Troy C Lund, Elizabeth Braunlin, Lynda E Polgreen, Ashish O Gupta, Paul J Orchard, Julie B Eisengart
Novel therapies for Hurler syndrome aim to cross the blood-brain barrier (BBB) to target neurodegeneration by degrading glycosaminoglycans (GAG). BBB penetration has been assumed with decreased cerebrospinal fluid (CSF) GAG, yet little is known about CSF GAG without brain-targeting therapies. We compared pre-transplant CSF GAG in patients who were treatment naïve (n=19) versus receiving standard non-BBB penetrating enzyme replacement therapy (ERT, n=12). In the ERT versus treatment naïve groups, CSF GAG was significantly lower across all content assayed, raising questions about using CSF GAG decrements to show BBB penetration...
September 7, 2023: Annals of Neurology
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