Results 41 to 50 of about 1,231,881 (216)

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

SYHA1813, A VEGFR and CSF1R Inhibitor, in Patients With Recurrent High‐Grade Gliomas: A Multicenter, Open‐Label Phase I Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recurrent high‐grade gliomas have a poor prognosis and limited therapeutic options. This study aimed to evaluate the safety and efficacy of SYHA1813, a dual inhibitor of VEGFR and CSF1R, in patients with recurrent high‐grade gliomas.
Zhuang Kang, Shenglan Li, Liang Wang, Qianxue Chen, Weiguo Hu, Ting Lei, Ying Mao, Jing Zhang, Xiaojun Xiang, Qiming Wang, Zhengwen He, Tao Sun, Yulei Wang, Mengqian Huang, Rong Zhang, Feng Chen, Wenbin Li   +16 more
wiley   +1 more source

Durability of Response to B‐Cell Maturation Antigen‐Directed mRNA Cell Therapy in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We report the 12‐month follow‐up outcomes from a Phase 2 clinical trial (NCT04146051) evaluating Descartes‐08, a BCMA‐directed RNA chimeric antigen receptor T‐cell (rCAR‐T) therapy for refractory generalized myasthenia gravis (MG).
Nizar Chahin, Gregory Sahagian, Marc H. Feinberg, C. Andrew Stewart, Christopher M. Jewell, Metin Kurtoglu, Miloš D. Miljković, Tuan Vu, Tahseen Mozaffar, James F. Howard Jr, the MG‐001 Study Group   +10 more
wiley   +1 more source

Functional Connectivity Associations With Markers of Disease Progression in GRN Pathogenic Variant Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autosomal dominant progranulin (GRN) pathogenic variants are a genetic cause of frontotemporal lobar degeneration. Though clinical trials for GRN‐related therapies are underway, there is an unmet need for biomarkers that can predict symptom onset and track disease progression.
Taru M. Flagan, Stephanie A. Chu, Suvi Häkkinen, Liwen Zhang, David McFall, Jonathan D. Rohrer, Jesse A. Brown, Alex J. Lee, Kristen Fernhoff, Lorenzo Pasquini, Katherine P. Rankin, Maria Luisa Mandelli, Maria Luisa Gorno‐Tempini, Jennifer S. Yokoyama, Virginia E. Sturm, Brian Appleby, Bradford C. Dickerson, Kimiko Domoto‐Reilly, Tatiana Foroud, Daniel H. Geschwind, Nupur Ghoshal, Neill R. Graff‐Radford, Ging‐Yuek Robin Hsiung, Eric J. Huang, Edward Huey, Kejal Kantarci, Irene Litvan, Ian R. Mackenzie, Mario F. Mendez, Chiadi U. Onyike, Leonard Petrucelli, Eliana Marisa Ramos, Erik D. Roberson, Julio C. Rojas, Maria Carmela Tartaglia, Arthur W. Toga, Sandra Weintraub, Leah K. Forsberg, Hilary W. Heuer, Brad F. Boeve, Adam L. Boxer, Howard J. Rosen, Bruce L. Miller, Fermin Moreno, William W. Seeley, Suzee E. Lee, on behalf of the ALLFTD Consortium   +46 more
wiley   +1 more source

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source

Single‐Cell RNA Seq in Sydenham Chorea Shows B Cell HLA‐DR/DQ Upregulation and Plasma Cell Proteasomal Activation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han, Brooke A. Keating, Brian S. Gloss, Xianzhong Lau, Ruwani Dissanayake, Hiroya Nishida, Jessica Hayes, Shrujna Patel, Shekeeb S. Mohammad, Russell C. Dale   +9 more
wiley   +1 more source

CSF Mitochondrial DNA: Biomarker of Body Composition and Energy Metabolism in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebrospinal fluid (CSF) cell‐free mitochondrial DNA (cf‐mtDNA) is a potential biomarker for Parkinson's disease (PD), but its clinical relevance remains unclear. We investigated associations between CSF cf‐mtDNA levels, body composition, nutritional status, and metabolic biomarkers in PD. Methods CSF cf‐mtDNA levels, defined as the
Yasuaki Mizutani, Tsuyoshi Nakai, Yasuhiro Maeda, Reiko Ohdake, Atsuhiro Higashi, Toshiki Maeda, Ryunosuke Nagao, Sayuri Shima, Kazuya Kawabata, Akihiro Ueda, Mizuki Ito, Hirohisa Watanabe   +11 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Plasma p‐tau181 as a Marker of Conversion to Alzheimer's Disease Dementia and Worsening in Cognitive Functions in Subjective Cognitive Decline and Mild Cognitive Impairment: A Longitudinal Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Plasma p‐tau181 has proven to be a promising diagnostic and prognostic tool in the earliest phases of Alzheimer's disease (AD). We aimed to evaluate the prognostic role of p‐tau181 in predicting conversion to AD dementia and worsening in cognition in mild cognitive impairment (MCI) and subjective cognitive decline (SCD).
Giulia Giacomucci, Assunta Ingannato, Chiara Crucitti, Silvia Bagnoli, Elisa Marcantelli, Sonia Padiglioni, Valentina Moschini, Carmen Morinelli, Laura Falsini, Sandro Sorbi, Valentina Berti, Benedetta Nacmias, Valentina Bessi   +12 more
wiley   +1 more source