keyword
https://read.qxmd.com/read/38546204/%C3%AE-synuclein-pathology-in-prkn-linked-parkinson-s-disease-new-insights-from-a-blood-based-seed-amplification-assay
#1
JOURNAL ARTICLE
Annika Kluge, Max Borsche, Linn Streubel-Gallasch, Tuğçe Gül, Susen Schaake, Alexander Balck, Jannik Prasuhn, Philip Campbell, Huw R Morris, Anthony H Schapira, Katja Lohmann, Norbert Brüggemann, Aleksandar Rakovic, Philip Seibler, A Nazlı Başak, Daniela Berg, Christine Klein
Pathogenic variants in PRKN cause early-onset Parkinson's disease (PD), while the role of alpha-synuclein in PRKN-PD remains uncertain. One study performed a blood-based alpha-synuclein seed amplification assay (SAA) in PRKN-PD, not detecting seed amplification in 17 PRKN-PD patients. By applying a methodologically different SAA focusing on neuron-derived extracellular vesicles, we demonstrated alpha-synuclein seed amplification in 8 of 13 PRKN-PD patients, challenging the view of PRKN-PD as a non-synucleinopathy...
March 28, 2024: Annals of Neurology
https://read.qxmd.com/read/38546184/retraction-5-lipoxygenase-gene-transfer-worsens-memory-amyloid-and-tau-brain-pathologies-in-a-mouse-model-of-alzheimer-disease
#2
(no author information available yet)
Retraction: Jin Chu, Phillip F. Giannopoulos, Carolina Ceballos-Diaz, Todd E. Golde, Domenico Pratico (2012), 5-Lipoxygenase gene transfer worsens memory, amyloid, and tau brain pathologies in a mouse model of alzheimer disease. Ann Neurol., 72: 442-454. https://doi.org/10.1002/ana.23642 The above article, published online on 09 May 2012 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the authors, the journal Editor-in-Chief, Kenneth L. Tyler, American Neurological Association and Wiley Periodicals LLC...
March 28, 2024: Annals of Neurology
https://read.qxmd.com/read/38544359/genome-and-rna-sequencing-boost-neuromuscular-diagnoses-to-62-from-34-with-exome-sequencing-alone
#3
JOURNAL ARTICLE
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
OBJECTIVE: Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence-based recommendations for their integration into practice. METHODS: In total, 247 families with suspected monogenic neuromuscular disorders who remained without a genetic diagnosis after standard diagnostic investigations underwent research-led massively parallel sequencing: neuromuscular disorder gene panel, exome, genome, and/or RNA sequencing to identify causal variants...
March 27, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38544341/cognitive-phenotype-and-neurodegeneration-associated-with-tau-in-huntington-s-disease
#4
JOURNAL ARTICLE
Saul Martinez-Horta, Jesús Perez-Perez, Rocío Perez-Gonzalez, Frederic Sampedro, Andrea Horta-Barba, Antonia Campolongo, Elisa Rivas-Asensio, Arnau Puig-Davi, Javier Pagonabarraga, Jaime Kulisevsky
OBJECTIVE: The clinical phenotype of Huntington's disease (HD) can be very heterogeneous between patients, even when they share equivalent CAG repeat length, age, or disease burden. This heterogeneity is especially evident in terms of the cognitive profile and related brain changes. To shed light on the mechanisms participating in this heterogeneity, the present study delves into the association between Tau pathology and more severe cognitive phenotypes and brain damage in HD. METHODS: We used a comprehensive neuropsychological examination to characterize the cognitive phenotype of a sample of 30 participants with early-to-middle HD for which we also obtained 3 T structural magnetic resonance image (MRI) and cerebrospinal fluid (CSF)...
March 27, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38532291/where-neurostimulation-meets-neurodegeneration-in-parkinson-s-disease-related-to-gba-variants
#5
EDITORIAL
Ludy C Shih, Margaret O'Connor
No abstract text is available yet for this article.
March 26, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38532258/optimized-microburst-vns-elicits-fmri-responses-beyond-thalamic-specific-response-from-standard-vns
#6
JOURNAL ARTICLE
Jerzy P Szaflarski, Jane B Allendorfer, Jason Begnaud, Giovanni Ranuzzi, Elhum Shamshiri, Ryan Verner
OBJECTIVE: In parallel to standard vagus nerve stimulation (VNS), microburst stimulation delivery has been developed. We evaluated the fMRI-related signal changes associated with standard and optimized microburst stimulation in a proof-of-concept study (NCT03446664). METHODS: Twenty-nine drug-resistant epilepsy patients were prospectively implanted with VNS. Three 3T fMRI scans were collected 2 weeks postimplantation. The maximum tolerated VNS intensity was determined prior to each scan starting at 0...
March 26, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38530706/autophagy-related-5-in-acute-ischemic-stroke-variation-and-linkage-with-neurofunction-and-survival
#7
JOURNAL ARTICLE
Fan Chen, Linxia Wu, Meng Zhang, Minchen Kan, Huimin Chen, Xiaohua Wang, Juanjuan Qu
OBJECTIVE: Autophagy-related 5 (ATG5) facilitates the pathologic process of acute ischemic stroke (AIS) via multiple ways. This study aimed to identify the association of serum ATG5 with clinical outcomes in AIS patients. METHODS: Serum ATG5 from 280 AIS patients were detected at admission, Day (D)1, D3, D7, D30, and D90 after admission by enzyme-linked immunosorbent assay. The median (interquartile range) follow-up was 21.1 (5.9-43.9) months. Another 50 healthy controls (HCs) were also enrolled for serum ATG5 determination...
March 26, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38529711/real-world-healthcare-cost-savings-and-reduced-relapse-rate-with-off-label-rituximab-versus-disease-modifying-treatments-approved-for-relapsing-remitting-multiple-sclerosis-a-nationwide-cost-effectiveness-study
#8
JOURNAL ARTICLE
Peter Alping, Martin Neovius, Fredrik Piehl, Thomas Frisell
OBJECTIVE: Although off-label use of rituximab is a common alternative to disease-modifying therapies (DMTs) approved for multiple sclerosis (MS) in several countries, the impact of this on treatment cost-effectiveness is not well known. METHODS: We evaluated the relative cost-effectiveness of rituximab and MS-approved DMTs in a register-based cohort study of Swedish residents with relapsing-remitting MS, aged 18-65 years, starting treatment with rituximab, natalizumab, fingolimod, or dimethyl fumarate between January 2010 and July 2016, and followed through July 2021 (n = 5,924)...
March 26, 2024: Annals of Neurology
https://read.qxmd.com/read/38526543/use-of-lcp-tacrolimus-lcpt-in-kidney-transplantation-a-delphi-consensus-survey-of-expert-clinicians
#9
JOURNAL ARTICLE
Alexander Wiseman, Tarek Alhamad, Rita R Alloway, Beatrice P Concepcion, Matthew Cooper, Richard Formica, Christina L Klein, Vineeta Kumar, Nicolae Leca, Fuad Shihab, David J Taber, Sarah Mulnick, Donald M Bushnell, Monica Hadi, Suphamai Bunnapradist
BACKGROUND LCPT (Envarsus XR®) is a common once-daily, extended-release oral tacrolimus formulation used in kidney transplantation. However, there are minimal evidence-based recommendations regarding optimal dosing and treatment in the de novo and conversion settings. MATERIAL AND METHODS Using Delphi methodology, 12 kidney transplantation experts with LCPT experience reviewed available data to determine potential consensus topics. Key statements regarding LCPT use were generated and disseminated to the panel in an online Delphi survey...
March 12, 2024: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://read.qxmd.com/read/38520151/pro-hemorrhagic-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-associated-with-notch3-p-r75p-mutation-with-low-vascular-notch3-aggregation-property
#10
JOURNAL ARTICLE
Hiroyuki Ishiyama, Hyunjin Kim, Satoshi Saito, Soichi Takeda, Misa Takegami, Yumi Yamamoto, Soichiro Abe, Shinsaku Nakazawa, Tomotaka Tanaka, Kazuo Washida, Yoshiaki Morita, Seung-Taek Oh, Hee-Jae Jung, Jay Chol Choi, Yuriko Nakaoku, Jin Nakahara, Masatoshi Koga, Kazunori Toyoda, Kisaki Amemiya, Yoshihiko Ikeda, Kinta Hatakeyama, Ikuko Mizuta, Toshiki Mizuno, Kwang-Kuk Kim, Masafumi Ihara
OBJECTIVES: Intracerebral hemorrhage (ICH) and cerebral microbleeds (CMB) in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy are more common in East Asian populations than in people of white European ancestry. We hypothesized that the ethnic difference is explained by the East Asian-specific NOTCH3 p.R75P mutation. METHODS: This retrospective observational study included 118 patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in Japanese and Korean cohorts...
March 23, 2024: Annals of Neurology
https://read.qxmd.com/read/38516846/pathogenic-potential-of-eomesodermin-expressing-t-helper-cells-in-neurodegenerative-diseases
#11
JOURNAL ARTICLE
Tomomi Kanazawa, Wakiro Sato, Ben J E Raveney, Daiki Takewaki, Atsuko Kimura, Hiromi Yamaguchi, Yuma Yokoi, Reiko Saika, Yuji Takahashi, Tsuneo Fujita, Shinji Saiki, Akira Tamaoka, Shinji Oki, Takashi Yamamura
Eomesodermin-expressing (Eomes+ ) T-helper (Th) cells show cytotoxic characteristics in secondary progressive multiple sclerosis. We found that Eomes+ Th cell frequency was increased in the peripheral blood of amyotrophic lateral sclerosis and Alzheimer's disease patients. Furthermore, granzyme B production by Th cells from such patients was high compared with controls. A high frequency of Eomes+ Th cells was observed in the initial (acutely progressive) stage of amyotrophic lateral sclerosis, and a positive correlation between Eomes+ Th cell frequency and cognitive decline was observed in Alzheimer's disease patients...
March 22, 2024: Annals of Neurology
https://read.qxmd.com/read/38509645/palliative-psychiatry-for-a-patient-with-treatment-refractory-schizophrenia-and-severe-chronic-malignant-catatonia-case-report
#12
JOURNAL ARTICLE
Junona Elgudin, Clark Johnsen, Anna Lisa Westermair, Manuel Trachsel
BACKGROUND: Palliative psychiatry is an emerging field that suggests a role for palliative interventions in the management of severe and persistent mental illness (SPMI). Current literature describes using a palliative approach for patients with severe anorexia nervosa. To our knowledge, this is the first case report describing end-of-life care in a patient with treatment-refractory catatonic schizophrenia. CASE DESCRIPTION: We describe the case of a 49-year-old man with schizophrenia and severe chronic agitated/malignant catatonia who was hospitalized for ten months...
March 19, 2024: Annals of Palliative Medicine
https://read.qxmd.com/read/38509632/are-we-aware-of-neural-activity-in-primary-visual-cortex-a-neuropsychological-case-study
#13
Fabien Hauw, Aude Sangaré, Esteban Munoz-Musat, Claire Meyniel, Nina Di Donato, Sylvie Chokron, Frédérique Bozon, Lionel Naccache
OBJECTIVE: According to a seminal hypothesis stated by Crick and Koch in 1995, one is not aware of neural activity in primary visual cortex (V1) because this region lacks reciprocal connections with prefrontal cortex (PFC). METHODS: We provide here a neuropsychological illustration of this hypothesis in a patient with a very rare form of cortical blindness: ventral and dorsal cortical pathways were lesioned bilaterally while V1 areas were partially preserved. RESULTS: Visual stimuli escaped conscious perception but still activated V1 regions that were functionally disconnected from PFC...
March 20, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38509388/adult-type-i-gaucher-disease-with-splenectomy-caused-by-a-compound-heterozygous-gba1-mutation-in-a-chinese-patient-a-case-report
#14
JOURNAL ARTICLE
Jian-Hui Zhang, Hui Chen, Dan-Dan Ruan, Ying Chen, Li Zhang, Mei-Zhu Gao, Qian Chen, Hong-Ping Yu, Jia-Yi Wu, Xin-Fu Lin, Zhu-Ting Fang, Xiao-Ling Zheng, Jie-Wei Luo, Li-Sheng Liao, Hong Li
Gaucher disease (GD) is an autosomal recessive ailment resulting from glucocerebrosidase deficiency caused by a mutation in the GBA1 gene, leading to multi-organ problems in the liver, spleen, and bone marrow. In China, GD is extremely uncommon and has a lower incidence rate than worldwide. In this study, we report the case of an adult male with an enlarged spleen for 13 years who presented with abdominal distension, severe loss of appetite and weight, reduction of the three-line due to hypersplenism, frequent nosebleeds, and bloody stools...
March 20, 2024: Annals of Hematology
https://read.qxmd.com/read/38506405/optimized-multilayer-perceptron-for-sensorimotor-functional-mapping-based-on-a-few-minutes-of-intracranial-electroencephalogram-data
#15
JOURNAL ARTICLE
Alwan Iktimal, Dennis D Spencer, Rafeed Alkawadri
Using 6-minute free-running intracranial-electroencephalogram (icEEG) during sleep, an optimized multilayer perceptron (MLP) neural network accurately maps the sensorimotor cortex (SM) and identifies the anterior lip of the central sulcus (CS) in intractable epilepsy patients. We calculated 6 performance metrics to evaluate the MLP's efficacy: accuracy, area under the curve (AUC), recall, precision, F1-scores, and specificity. Each layer had 4 neurons with hyperbolic TanH activation function and 4 with Gaussian distribution function...
March 20, 2024: Annals of Neurology
https://read.qxmd.com/read/38504481/recurrent-atp1a1-variant-gly903arg-causes-developmental-delay-intellectual-disability-and-autism
#16
Maike F Dohrn, Guney Bademci, Adriana P Rebelo, Médéric Jeanne, Nicholas A Borja, Danique Beijer, Matt C Danzi, Stephanie A Bivona, Paul Gueguen, Mohammad F Zafeer, Mustafa Tekin, Stephan Züchner
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability...
March 19, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38501716/beyond-the-final-heartbeat-neurological-perspectives-on-normothermic-regional-perfusion-for-organ-donation-after-circulatory-death
#17
REVIEW
Matthew P Kirschen, Ariane Lewis, Michael A Rubin, Panayiotis N Varelas, David M Greer
Normothermic regional perfusion (NRP) has recently been used to augment organ donation after circulatory death (DCD) to improve the quantity and quality of transplantable organs. In DCD-NRP, after withdrawal of life-sustaining therapies and cardiopulmonary arrest, patients are cannulated onto extracorporeal membrane oxygenation to reestablish blood flow to targeted organs including the heart. During this process, aortic arch vessels are ligated to restrict cerebral blood flow. We review ethical challenges including whether the brain is sufficiently reperfused through collateral circulation to allow reemergence of consciousness or pain perception, whether resumption of cardiac activity nullifies the patient's prior death determination, and whether specific authorization for DCD-NRP is required...
March 19, 2024: Annals of Neurology
https://read.qxmd.com/read/38501714/mitochondrial-dysfunction-of-peripheral-platelets-as-a-predictive-biomarker-for-postoperative-delirium-in-elderly-patients
#18
JOURNAL ARTICLE
Yan Yang, Wei Zhang, Yue Liu, Xin Liu, Jun Xie, Rui Xu, Yulin Huang, Jing Hao, Yu'e Sun, Xiaoping Gu, Zhengliang Ma
OBJECTIVE: To determine the association between the preoperative Bioenergetic Health Index (BHI) of platelets and the occurrence of postoperative delirium (POD) in elderly patients. METHODS: Elderly patients scheduled for major abdominal surgery under general anesthesia were included. The presence of POD was assessed within the 3 days after surgery. Seahorse XF analysis and transmission electron microscopy were utilized to evaluate the mitochondrial metabolism and morphology of platelets...
March 19, 2024: Annals of Neurology
https://read.qxmd.com/read/38501712/neuromuscular-ultrasound-in-cervical-nerve-root-avulsion
#19
JOURNAL ARTICLE
Nicholas J Miller, James B Meiling, James B Caress, Michael S Cartwright
No abstract text is available yet for this article.
March 19, 2024: Annals of Neurology
https://read.qxmd.com/read/38501697/furthering-female-faculty-an-american-neurological-association-association-of-university-professors-of-neurology-perspective
#20
JOURNAL ARTICLE
L John Greenfield, Shilpi Mittal, Sima I Patel, Christa O'Hana S Nobleza, Deborah Bradshaw
No abstract text is available yet for this article.
March 19, 2024: Annals of Neurology
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