样式: 排序: IF: - GO 导出 标记为已读
-
Distinctive cell‐free DNA methylation characterizes presymptomatic genetic frontotemporal dementia Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-14 Lucia A. A. Giannini, Ruben G. Boers, Emma L. van der Ende, Jackie M. Poos, Lize C. Jiskoot, Joachim B. Boers, Wilfred F. J. van IJcken, Elise G. Dopper, Yolande A. L. Pijnenburg, Harro Seelaar, Lieke H. Meeter, Jeroen G. J. van Rooij, Wiep Scheper, Joost Gribnau, John C. van Swieten
ObjectiveMethylation of plasma cell‐free DNA (cfDNA) has potential as a marker of brain damage in neurodegenerative diseases such as frontotemporal dementia (FTD). Here, we study methylation of cfDNA in presymptomatic and symptomatic carriers of genetic FTD pathogenic variants, next to healthy controls.MethodscfDNA was isolated from cross‐sectional plasma of 10 presymptomatic carriers (4 C9orf72, 4
-
Nicolau syndrome following glatiramer acetate for multiple sclerosis: Case and review of reports Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-14 Methma Udawatta, Farrah J. Mateen
Nicolau syndrome is a rare, iatrogenic skin reaction after parental drug administration, characterized by severe pain at an injection site, followed by hemorrhage, ulceration, and often necrosis. We present a case of a patient on glatiramer acetate for many years (initially Copaxone then Glatopa) who developed Nicolau syndrome, the second reported case after generic glatiramer acetate. All reported
-
Quantitative brain 18F‐FDG PET/CT analysis in seronegative autoimmune encephalitis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-08 Samantha N. Roman, Moe S. Sadaghiani, Luisa A. Diaz‐Arias, Marion Le Marechal, Arun Venkatesan, Lilja B. Solnes, John C. Probasco
ObjectiveBrain 18F‐FDG PET/CT is a useful diagnostic in evaluating patients with suspected autoimmune encephalitis (AE). Specific patterns of brain dysmetabolism have been reported in anti‐NMDAR and anti‐LGI1 AE, and the degree of dysmetabolism may correlate with clinical functional status.18FDG‐PET/CT abnormalities have not yet been described in seronegative AE.MethodsWe conducted a cross‐sectional
-
Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-05 Yusen Qiu, Ying Xiong, Lulu Wang, Min Zhu, Dandan Tan, Daojun Hong
Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical, electrophysiological, pathological, and genetic characteristics of a Chinese patient with spastic paraplegia associated with recessive variants in COQ7. This patient carried a novel c.322C>A (p.Pro108Thr) homozygous variant. Sural
-
Multiple biomarkers improve diagnostic accuracy across Lewy body and Alzheimer's disease spectra Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-04 Melanie J. Plastini, Carla Abdelnour, Christina B. Young, Edward N. Wilson, Marian Shahid‐Besanti, Jennifer Lamoureux, Katrin I. Andreasson, Geoffrey A. Kerchner, Thomas J. Montine, Victor W. Henderson, Kathleen L. Poston
ObjectiveMore than half of neurodegenerative disease patients have multiple pathologies at autopsy; however, most receive one diagnosis during life. We used the α‐synuclein seed amplification assay (αSyn‐SAA) and CSF biomarkers for amyloidosis and Alzheimer's disease (AD) neuropathological change (ADNC) to determine the frequency of co‐pathologies in participants clinically diagnosed with Lewy body
-
The thalamic covariance network is associated with cognitive deficits in patients with cerebral small vascular disease Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-04 Wei Yan, Siwei Tang, Li Chen, Ting Lei, Haiqing Li, Yuxing Jiang, Miao He, Lijing Zhou, Yajun Li, Chen Zeng, Hongjian Li
ObjectiveAbnormalities in the gray matter structure of cerebral small vessel disease (CSVD) have been observed throughout the brain. However, whether cortico‐cortical connections exist between regions of gray matter atrophy in patients with CSVD has not been fully elucidated. This question was tested by comparing the gray matter covariance networks in CSVD patients with and without cognitive impairment
-
Micro‐diffusely abnormal white matter: An early multiple sclerosis lesion phase with intensified myelin blistering Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-01 Antonio Luchicchi, Gema Muñoz‐Gonzalez, Saar T. Halperin, Eva Strijbis, Laura H. M. van Dijk, Chrisa Foutiadou, Florence Uriac, Piet M. Bouman, Maxime A. N. Schouten, Jason Plemel, Bert A. 't Hart, Jeroen J. G. Geurts, Geert J. Schenk
ObjectiveMultiple sclerosis (MS) is a chronic central nervous system disease whose white matter lesion origin remains debated. Recently, we reported subtle changes in the MS normal appearing white matter (NAWM), presenting with an increase in myelin blisters and myelin protein citrullination, which may recapitulate some of the prodromal degenerative processes involved in MS pathogenesis. Here, to clarify
-
Identification of potential biomarkers for neuromyelitis optica by quantitative proteomics Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-03-01 Yaowei Ding, Yuxin Chen, Jialu Sun, Yijun Shi, Guoge Li, Xin Luan, Siqi Wang, Xiaotong Li, Wencan Jiang, Lijuan Wang, Guojun Zhang
ObjectiveNeuromyelitis optica (NMO) was a serious autoimmune inflammatory condition affecting the central nervous system. Currently, there was a lack of diagnostic biomarkers for AQP4‐IgG‐negative NMO patients.MethodsA comparative proteomic analysis was conducted on the CSF of 10 patients with NMO and 10 patients with non‐inflammatory neurological disorders (NND) using tandem mass tagging technology
-
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-24 Megan M. Shen, Christian Rummey, David R. Lynch
ObjectiveMost individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA expansion on one allele and a mutation on the other. The study aim was to examine phenotypic variation among compound heterozygotes.MethodsData on FXN mutations were
-
Predicting the impact of CPAP on brain health: A study using the sleep EEG‐derived brain age index Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-24 Soonhyun Yook, Hea Ree Park, Eun Yeon Joo, Hosung Kim
ObjectiveThis longitudinal study investigated potential positive impact of CPAP treatment on brain health in individuals with obstructive sleep Apnea (OSA). To allow this, we aimed to employ sleep electroencephalogram (EEG)‐derived brain age index (BAI) to quantify CPAP's impact on brain health and identify individually varying CPAP effects on brain aging using machine learning approaches.MethodsWe
-
Parkinsonism‐dystonia‐2: Case‐series study from Saudi Arabia Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-23 Mohammed A. Almuqbil, Sadia Tabassum, Osama Y. Muthaffar, Fouad Ghamdi, Zainab Al Masseri, Abdulaziz Alsaman, Reem A. Alkhater
Parkinsonism‐dystonia‐2 PKDYS2 is an autosomal‐recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one
-
Loneliness as neurobehavioral issue in amyotrophic lateral sclerosis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-23 Monica Consonni, Veronica Faltracco, Eleonora Dalla Bella, Alessandra Telesca, Enrica Bersano, Anna Nigri, Greta Demichelis, Jean P. Medina, Maria G. Bruzzone, Giuseppe Lauria
ObjectiveIn elderly people loneliness represents a risk factor for dementia and may negatively impact on mental and physical health. The specific contribute of loneliness to cognitive and behavioral functioning have not yet been determined in amyotrophic lateral sclerosis (ALS). Our hypothesis was that loneliness may be related to motor dysfunction with a negative impact on cognitive and behavioral
-
Pituitary neuroendocrine tumor: A neuropsychological comparison with intra‐axial tumor Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-22 Hanlu Tang, Yehong Fang, Zhixu Bie, Heyuan Jia, Bo Wang, Zhijun Yang, Ruolin Yang, Zhixian Gao, Xingchao Wang, Pinan Liu
ObjectiveDespite pituitary neuroendocrine tumor (PitNET) being extra‐axial tumors without direct damage to brain tissue, patients with PitNET exhibit neuropsychological impairments. However, it remains unclear whether there are neuropsychological differences between PitNET and intra‐axial tumors that directly destroy the brain parenchyma. This prospective study aims to clarify this distinction to inform
-
Efficacy and tolerability of adjunctive lacosamide in patients aged <4 years with focal seizures Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-20 Iryna Makedonska, Yu-Tze Ng, Cynthia Beller, Ali Bozorg, János Csikós, Carrie McClung, Holger Moeltgen, Mark Kristof Farkas
Primary objective was to evaluate efficacy of lacosamide administered concomitantly with 1–3 antiseizure medications in young children with uncontrolled focal (partial-onset) seizures.
-
Minimally conscious state plus versus minus: Likelihood of emergence and long-term functional independence Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-17 Roberto Llorens, Camilla Ippoliti, María Dolores Navarro, Carolina Colomer, Anny Maza, Sandra Goizueta, José Olaya, Belén Moliner, Joan Ferri, Enrique Noé
Severe brain injuries can result in disorders of consciousness, such as the Minimally Conscious State (MCS), where individuals display intermittent yet discernible signs of conscious awareness. The varied levels of responsiveness and awareness observed in this state have spurred the progressive delineation of two subgroups within MCS, termed “plus” (MCS+) and “minus” (MCS-). However, the clinical validity
-
Sphingosine 1-phosphate receptor modulators in multiple sclerosis treatment: A practical review Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-16 Patricia K. Coyle, Mark S. Freedman, Bruce A. Cohen, Bruce A. C. Cree, Clyde E. Markowitz
Four sphingosine 1-phosphate (S1P) receptor modulators (fingolimod, ozanimod, ponesimod, and siponimod) are approved by the US Food and Drug Administration for the treatment of multiple sclerosis. This review summarizes efficacy and safety data on these S1P receptor modulators, with an emphasis on similarities and differences. Efficacy data from the pivotal clinical trials are generally similar for
-
Impact of neuromyelitis optica spectrum disorder on employment and income in the United States Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-20 Isabella Gomez Hjerthen, Cristina Trápaga Hacker, William Meador, Ahmed Z. Obeidat, Lucas Horta, Farrah J. Mateen
Background and ObjectivesWe aim to characterize the sociodemographic and clinical factors associated with loss of jobs, income, and work hours in people with neuromyelitis optica spectrum disorder (NMOSD) in the United States.MethodsA REDCap‐based survey was administered to working‐age NMOSD patients (18–70 years old) querying demographic information, symptoms, immunosuppression, work hours, income
-
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-20 Jonathan D. Santoro, Mellad M. Khoshnood, Saba Jafarpour, Lina Nguyen, Natalie K. Boyd, Benjamin N. Vogel, Ryan Kammeyer, Lina Patel, Melanie A. Manning, Angela L. Rachubinski, Robyn A. Filipink, Nicole T. Baumer, Stephanie L. Santoro, Catherine Franklin, Benita Tamrazi, Kristen W. Yeom, Gordon Worley, Joaquin M. Espinosa, Michael S. Rafii
ObjectiveTo determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses.MethodsA multicenter, retrospective, case–control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome
-
The central pattern of weakness of ALS: Morphological correlates in whole-body muscle MRI Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-14 Nathalie Wimmer, Hans-Peter Müller, Patrick Metze, Volker Rasche, Albert C. Ludolph, Jan Kassubek
Monosynaptically cortically innervated α-motoneurons are early and strongly involved in amyotrophic lateral sclerosis (ALS). Consequently, the muscles that receive the strongest direct corticomotoneuronal input are the clinically most affected. To objectify this concept in vivo through morphological image correlates, whole-body magnetic resonance imaging (MRI) with muscle signal analysis was performed
-
Associations of inflammatory cytokines and cortisol with nonmotor features of Huntington's disease Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-14 Hiba Bilal, Stuart J. McDonald, Julie C. Stout, Ian H. Harding
Huntington's disease (HD) is an inherited neurodegenerative disease involving progressive motor abnormalities, cognitive decline, and psychiatric disturbances. Depression and cognitive difficulties are among the most impactful symptoms of HD, yet the pathogenesis of these symptoms is not fully understood. HD involves low-level chronic inflammation and dysregulation of the hypothalamic–pituitary–adrenal
-
CD11c+ B cells in relapsing–remitting multiple sclerosis and effects of anti-CD20 therapy Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-08 Sahla El Mahdaoui, Marie Mathilde Hansen, Marina Rode von Essen, Victoria Hyslop Hvalkof, Rikke Holm Hansen, Mie Reith Mahler, Poul Jennum, Finn Sellebjerg, Jeppe Romme Christensen
B cells are important in the pathogenesis of multiple sclerosis. It is yet unknown which subsets may be involved, but atypical B cells have been proposed as mediators of autoimmunity. In this study, we investigated differences in B-cell subsets between controls and patients with untreated and anti-CD20-treated multiple sclerosis.
-
NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN-DBS status Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-09 Ahmad Almelegy, Srujanesh Gunda, Steven Buyske, Marc Rosenbaum, Sepehr Sani, Mitra Afshari, Leo V. Metman, Christopher G. Goetz, Deborah Hall, Mary M. Mouradian, Gian Pal
Mutations in the glucocerebrosidase (GBA1) gene and subthalamic nucleus deep brain stimulation (STN-DBS) are independently associated with cognitive dysfunction in persons with Parkinson's disease (PwP). We hypothesized that PwP with both GBA1 mutations and STN-DBS are at greater risk of cognitive dysfunction than PwP with only GBA1 mutations or STN-DBS, or neither. In this study, we determined the
-
Pitfalls of using video-EEG for a trial endpoint in children aged <4 years with focal seizures Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-06 Ali Bozorg, Cynthia Beller, Lori Jensen, Alexis Arzimanoglou, Catherine Chiron, Dennis Dlugos, John Gaitanis, James W. Wheless, Carrie McClung
Double-blind, randomized, and placebo-controlled trial SP0967 (NCT02477839/2013-000717-20) did not demonstrate superior efficacy of lacosamide versus placebo in patients aged ≥1 month to <4 years with uncontrolled focal seizures, per ≤72 h video-electroencephalogram (video-EEG)-based primary endpoints (reduction in average daily frequency of focal seizures at end-of-maintenance [EOM] versus end-of-baseline
-
Decoding the biology and clinical implication of neutrophils in intracranial aneurysm Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-05 Hang Ji, Yujing Han, Danyang Jie, Yue Li, Hailan Yang, Haogeng Sun, Chao You, Anqi Xiao, Yi Liu
Abundant neutrophils have been identified in both ruptured and unruptured intracranial aneurysm (IA) domes, with their function and clinical implication being poorly characterized.
-
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-05 Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, Tetsuya Oda, Tomoko Ikkaku, Ichiro Yokota, Yuji Takahashi, Yuta Suzuki, Takashi Matsukawa, Jun Goto, Kishin Koh, Yoshihisa Takiyama, Shinichi Morishita, Takeo Yoshikawa, Shoji Tsuji, Tatsushi Toda
Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early-onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these cases to enhance our understanding of disease etiology and facilitate the development of targeted therapies.
-
Asymptomatic spinal lesions in patients with AQP4-IgG-positive NMOSD: A real-world cohort study Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-04 Shugang Cao, Yunfei Zhu, Xiaosan Wu, Jing Du, Si Xu, Ping Cui, Qi Li, Mingwu Xia, Qun Xue, Yanghua Tian
This study aims to explore the frequency and influencing factors of asymptomatic spinal lesions (ASLs) and their impact on subsequent relapses in patients with AQP4-IgG-positive NMOSD (AQP4-NMOSD) in a real-world setting.
-
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-04 Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A. Reghan Foley, , Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell-Luria, Carsten G. Bönnemann
ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited
-
Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI-1601) in Friedreich's ataxia Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-04 Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun
Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations. Nomlabofusp (previously CTI-1601) is a frataxin replacement therapy with a unique mechanism of action that directly addresses this underlying frataxin deficiency. Phase 1 studies assessed the safety, pharmacokinetic, and pharmacodynamic
-
Fatigue predicts quality of life after leucine-rich glioma-inactivated 1-antibody encephalitis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-01 Sophie N. M. Binks, Michele Veldsman, Adam E. Handel, Saiju Jacob, Paul Maddison, Jan Coebergh, Sophia Michael, Sudarshini Ramanathan, Ava Easton, Mette Scheller Nissen, Maria Isabel Leite, David Okai, Morten Blaabjerg, Masud Husain, Sarosh R. Irani
Patient-reported quality-of-life (QoL) and carer impacts are not reported after leucine-rich glioma-inactivated 1-antibody encephalitis (LGI1-Ab-E). From 60 patients, 85% (51 out of 60) showed one abnormal score across QoL assessments and 11 multimodal validated questionnaires. Compared to the premorbid state, QoL significantly deteriorated (p < 0.001) and, at a median of 41 months, fatigue was its
-
A novel score to predict progression in anterior circulation single subcortical infarction patients Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-02-01 Jing Lin, Shiying Ruan, Weipeng Sun, Liangbin Dong, Shumeng Li, Qin Huang, Xiaocheng Mao, Jinchong Zhang, Keji Zou, Hudie Zhang, Pengcheng Huang, Pu Fang, Xiaobing Li, Yuhua Fan, Daojun Hong
Progressive infarction (PI) has a negative effect on functional prognosis. Our study aimed to develop and validate a risk score for predicting PI in patients with anterior circulation single subcortical infarction (ACSSI).
-
Nationwide survey of patients with multisystem proteinopathy in Japan Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-29 Satoshi Yamashita, Yuji Takahashi, Jun Hashimoto, Ayuka Murakami, Ryoichi Nakamura, Masahisa Katsuno, Rumiko Izumi, Naoki Suzuki, Hitoshi Warita, Masashi Aoki
Multisystem proteinopathy (MSP) is an inherited disorder in which protein aggregates with TAR DNA-binding protein of 43 kDa form in multiple organs. Mutations in VCP, HNRNPA2B1, HNRNPA1, SQSTM1, MATR3, and ANXA11 are causative for MSP. This study aimed to conduct a nationwide epidemiological survey based on the diagnostic criteria established by the Japan MSP study group.
-
Plasma proteomic profiles of UK Biobank participants with multiple sclerosis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-28 Benjamin M. Jacobs, Nicola Vickaryous, Gavin Giovannoni, Petroula Proitsi, Sheena Waters, Ruth Dobson
We aimed to describe plasma protein biomarkers of multiple sclerosis risk and to explore protein biomarkers of disease severity using radiological outcome measures.
-
Tau maturation in the clinicopathological spectrum of Lewy body and Alzheimer's disease Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-23 Sanaz Arezoumandan, Katheryn A.Q. Cousins, Daniel T. Ohm, MaKayla Lowe, Min Chen, James Gee, Jeffrey S. Phillips, Corey T. McMillan, Kelvin C. Luk, Andres Deik, Meredith A. Spindler, Thomas F. Tropea, Daniel Weintraub, David A. Wolk, Murray Grossman, Virginia Lee, Alice S. Chen-Plotkin, Edward B. Lee, David J. Irwin
Alzheimer's disease neuropathologic change and alpha-synucleinopathy commonly co-exist and contribute to the clinical heterogeneity of dementia. Here, we examined tau epitopes marking various stages of tangle maturation to test the hypotheses that tau maturation is more strongly associated with beta-amyloid compared to alpha-synuclein, and within the context of mixed pathology, mature tau is linked
-
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-23 Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann-Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe-Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann
This study aims to elucidate the long-term benefit of newborn screening (NBS) for individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included in NBS programs worldwide.
-
Locked-in syndrome after central pontine myelinolysis, an outstanding outcome of two patients Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-23 Maïlys Chabert, Corentin Dauleac, Maude Beaudoin-Gobert, Mélaine De-Quelen, Sophie Ciancia, Timothée Jacquesson, Simon Bertrand, Emmanuel Vivier, Donatien De-Marignan, Julien Jung, Nathalie Andre-Obadia, Florent Gobert, François Cotton, Jacques Luauté
Central pontine myelinolysis (CPM) is a rare demyelinating disease that affects the pons and which can cause extreme disabilities such as locked-in syndrome (LIS) in the initial phase. The aim of the study was to describe the evolution over a 12-month period of two patients with CPM causing an initial LIS.
-
Predicting disability and mortality in CV2/CRMP5-IgG associated paraneoplastic neurologic disorders Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-22 Sanem P. Uysal, Yadi Li, Nicolas R. Thompson, Alex Milinovich, Justin R. Abbatemarco, Jeffrey A. Cohen, Devon S. Conway, Daniel Ontaneda, John A. Morren, Amy Kunchok
We aimed to investigate the prognostic factors associated with clinical outcomes in CV2/Collapsin response-mediator protein 5 (CRMP5)-IgG paraneoplastic neurologic disorders (PND).
-
Aberrant brain–heart coupling is associated with the severity of post cardiac arrest brain injury Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-19 Bertrand Hermann, Diego Candia-Rivera, Tarek Sharshar, Martine Gavaret, Jean-Luc Diehl, Alain Cariou, Sarah Benghanem
To investigate autonomic nervous system activity measured by brain–heart interactions in comatose patients after cardiac arrest in relation to the severity and prognosis of hypoxic–ischemic brain injury.
-
Resting-state fMRI functional connectome of C9orf72 mutation status Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-17 Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean P. Medina Carrion, Sara Palermo, Paola Sciortino, Maurizio Cogoni, Federica Agosta, Silvia Basaia, Massimo Filippi, Marina Grisoli, Maria C. Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Maria G. Bruzzone, Adriano Chiò, Anna Nigri, Cristina Moglia
The resting-state functional connectome has not been extensively investigated in amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with patients' genetic status.
-
Proteomic signatures of physical, cognitive, and imaging outcomes in multiple sclerosis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-17 Kian Jalaleddini, Dejan Jakimovski, Anisha Keshavan, Shannon McCurdy, Kelly Leyden, Ferhan Qureshi, Atiyeh Ghoreyshi, Niels Bergsland, Michael G. Dwyer, Murali Ramanathan, Bianca Weinstock-Guttman, Ralph HB Benedict, Robert Zivadinov
A quantitative measurement of serum proteome biomarkers that would associate with disease progression endpoints can provide risk stratification for persons with multiple sclerosis (PwMS) and supplement the clinical decision-making process.
-
Peripheral nervous system manifestations of MOG antibody associated disease Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-17 Pranjal Gupta, Pritikanta Paul, Vyanka Redenbaugh, Yong Guo, Claudia Lucchinetti, Yahya Abdulrahman, Abhigyan Datta, Shailee Shah, Christopher J. Klein, Sean J. Pittock, Eoin P. Flanagan, Divyanshu Dubey
Recent studies have reported the involvement of peripheral nervous system (PNS) in association with MOG-IgG, including isolated neuropathies. In this retrospective study we characterized the PNS involvement in MOG antibody associated disease (MOGAD). Six out of 215 MOGAD patients had PNS involvement (all polyradiculopathy) that occurred concurrently with a CNS demyelinating episode. We also demonstrated
-
Estrogen-induced glial IL-1β mediates extrinsic retinal ganglion cell vulnerability in murine Nf1 optic glioma Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-16 Yunshuo Tang, Jit Chatterjee, Ngan Wagoner, Stephanie Bozeman, David H. Gutmann
Optic pathway gliomas (OPGs) arising in children with neurofibromatosis type 1 (NF1) can cause retinal ganglion cell (RGC) dysfunction and vision loss, which occurs more frequently in girls. While our previous studies demonstrated that estrogen was partly responsible for this sexually dimorphic visual impairment, herein we elucidate the underlying mechanism. In contrast to their male counterparts,
-
The neural correlates of topographical disorientation—a lesion analysis study Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-17 Eva Blondiaux, Andreas Diamantaras, Rahel Schumacher, Olaf Blanke, René Müri, Lukas Heydrich
Topographical disorientation refers to the selective inability to orient oneself in familiar surroundings. However, to date its neural correlates remain poorly understood. Here we use quantitative lesion analysis and a lesion network mapping approach in order to investigate seven patients with topographical disorientation. Our findings link not only the posterior parahippocampal gyrus (PHG) and retrosplenial
-
Spatiotemporal characteristics of neurophysiological changes in patients with four-repeat tauopathies Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-16 Niyatee Samudra, Hannah Lerner, Leslie Yack, Christine M. Walsh, Heidi E. Kirsch, Kiwamu Kudo, Claire Yballa, Renaud La Joie, Maria L. Gorno-Tempini, Salvatore Spina, William W. Seeley, Thomas C. Neylan, Bruce L. Miller, Gil D. Rabinovici, Adam Boxer, Lea T. Grinberg, Katherine P. Rankin, Srikantan S. Nagarajan, Kamalini G. Ranasinghe
Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), are the most common four-repeat tauopathies (4RT), and both frequently occur with varying degree of Alzheimer's disease (AD) copathology. Intriguingly, patients with 4RT and patients with AD are at opposite ends of the wakefulness spectrum—AD showing reduced wakefulness and excessive sleepiness whereas 4RT showing decreased homeostatic
-
Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-12 Daphne H. Schoenmakers, Irene van Beelen, Marije M.C. Voermans, Denise Perik, Menno D. Stellingwerff, Nicole I. Wolf, Johannes Berkhof, Marjo S. van der Knaap
Investigate the results and usability of the Vineland-3 as an outcome measure in vanishing white matter patients.
-
Early flexible endoscopic evaluation of swallowing after mechanical thrombectomy in stroke patients Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-12 João Pinho, Tareq Meyer, Bettina Mall, Bettina Maring, Annalena Döpp, Johanna Becker, Anneke Wehner, Sara Thissen, Beate Schumann-Werner, Omid Nikoubashman, Martin Wiesmann, Jörg. B. Schulz, Cornelius J. Werner, Arno Reich
The aims of the study were to (1) characterize the findings of flexible endoscopic evaluation of swallowing (FEES) in stroke patients undergoing mechanical thrombectomy (MT); (2) analyse the screening performance of the Standardized Swallowing Assessment (SSA); and (3) study the impact of FEES-defined dysphagia on 3-month outcomes.
-
Domain-specific cognitive impairment in multiple sclerosis: A systematic review and meta-analysis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-11 Katalin Lugosi, Marie A Engh, Zsolt Huszár, Péter Hegyi, Péter Mátrai, Gábor Csukly, Zsolt Molnár, Klaudia Horváth, Dóra Mátis, Zsolt Mezei
Methods of cognitive measurements in multiple sclerosis (MS) are not standardized. We aimed to identify the prevalence of cognitive domain-specific impairment (DSI) in MS by using subtests of the Brief Repeatable Battery of Neuropsychological Tests (BRB-N) with analyzing different cutoff values.
-
Consistency of electrical source imaging in presurgical evaluation of epilepsy across different vigilance states Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-12 Tamir Avigdor, Chifaou Abdallah, Jawata Afnan, Zhengchen Cai, Saba Rammal, Christophe Grova, Birgit Frauscher
The use of electrical source imaging (ESI) in assessing the source of interictal epileptic discharges (IEDs) is gaining increasing popularity in presurgical work-up of patients with drug-resistant focal epilepsy. While vigilance affects the ability to locate IEDs and identify the epileptogenic zone, we know little about its impact on ESI.
-
Repeated iv anti-CD20 treatment in multiple sclerosis: Long-term effects on peripheral immune cell subsets Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-10 Julia Feige, Tobias Moser, Katja Akgün, Kerstin Schwenker, Wolfgang Hitzl, Elisabeth Haschke-Becher, Tjalf Ziemssen, Johann Sellner
Repeated intravenous administration of anti-CD20 depleting monoclonal antibodies 6 months apart is among the highly effective treatment options in multiple sclerosis (MS). Here, we aimed to investigate peripheral immune cell subset depletion kinetics following either rituximab (RTX) or ocrelizumab (OCR) infusions in people with MS (pwMS).
-
The diagnostic value of the central vein sign in radiologically isolated syndrome Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-08 Cassandre Landes-Chateau, Michael Levraut, Darin T. Okuda, Albert Themelin, Mikael Cohen, Orhun H. Kantarci, Aksel Siva, Daniel Pelletier, Lydiane Mondot, Christine Lebrun-Frenay
The radiologically isolated syndrome (RIS) represents the earliest detectable preclinical phase of multiple sclerosis (MS). Increasing evidence suggests that the central vein sign (CVS) enhances lesion specificity, allowing for greater MS diagnostic accuracy. This study evaluated the diagnostic performance of the CVS in RIS.
-
Aβ38 and Aβ43 do not differentiate between Alzheimer's disease and cerebral amyloid angiopathy Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-07 Justina Dargvainiene, Ulf Jensen-Kondering, Benjamin Bender, Daniela Berg, Norbert Brüggemann, Charlotte Flüh, Robert Markewitz, Alexander Neumann, Benjamin Röben, Christoph Röcken, Georg Royl, Claudia Schulte, Klaus-Peter Wandinger, Caroline Weiler, Nils G. Margraf, Gregor Kuhlenbäumer
Differential diagnosis between Alzheimer's disease (AD) and cerebral amyloid angiopathy (CAA) using cerebrospinal fluid (CSF) biomarkers is challenging. A recent study suggested that the addition of Aβ38 and Aβ43 to a standard AD biomarker panel (Aβ40, Aβ42, t-tau, p-tau) to improve the differential diagnosis. We tested this hypothesis in an independent German cohort of CAA and AD patients and controls
-
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-03 Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens
With potential therapies for many forms of Charcot-Marie-Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials. Quantitative lower limb MRI demonstrated progressive calf intramuscular fat accumulation in the commonest form, CMT1A with large responsiveness. In this study, we evaluated the responsiveness and validity in the three other common forms, due to variants
-
Caregiver descriptions of dystonia in cerebral palsy Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-04 Fayza Jaleel, Alyssa Rust, Shirley Cheung, Toni S. Pearson, Keisuke Ueda, Amy Robichaux-Viehoever, Katie Leger, Keerthana Chintalapati, Danielle Guez-Barber, Michele Shusterman, Bhooma Aravamuthan
To determine how caregivers describe dystonia in people with cerebral palsy (CP).
-
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2024-01-02 Alexandra Santana Almansa, Dustin L. Gable, Zoë Frazier, Abigail Sveden, Aisling Quinlan, Maya Chopra, Sara A. Lewis, Michael Kruer, Annapurna Poduri, Siddharth Srivastava
Evaluation of the clinical utility of a genetic diagnosis in CP remains limited. We aimed to characterize the clinical utility of a genetic diagnosis by exome sequencing (ES) in patients with CP and related motor disorders.
-
Radiologic grading scores enhance clinical model's prognostic ability for Guillain–Barré syndrome Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-30 Qiang Fang, Danyang Wu, Bao Wang, Lili Cao, Shifeng Cai, Xiubin Sun, Jingzhen He
To assess the value of magnetic resonance imaging (MRI) grading scores based on lumbosacral muscle denervation edema in predicting the course of Guillain–Barré syndrome (GBS).
-
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-29 Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, Naoki Suzuki, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki
Multisystem proteinopathy type 3 (MSP3) is an inherited, pleiotropic degenerative disorder caused by a mutation in heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1), which can affect the muscle, bone, and/or nervous system. This study aimed to determine detailed histopathological features and transcriptomic profile of HNRNPA1-mutated skeletal muscles to reveal the core pathomechanism of hereditary
-
Effects of tirofiban on large vessel occlusion stroke are modified by etiology and renal function Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-29 Chang Liu, Fengli Li, Liyuan Chen, Jiacheng Huang, Hongfei Sang, Thanh N. Nguyen, Jeffrey L. Saver, Mohamad Abdalkader, Weiling Kong, Jie Yang, Changwei Guo, Chen Gong, Liping Huang, Yanzhu Pan, Xinxin Wang, Yangmei Chen, Zhongming Qiu, Wenjie Zi
Renal function can modify the outcomes of large vessel occlusion (LVO) stroke across stroke etiologies in disparate degrees. The presence of renal function deficit can also impair the pharmacokinetics of tirofiban. Hence, this study aimed to investigate the roles of renal function in determining efficacy and safety of intravenous tirofiban before endovascular treatment (EVT) for acute ischemic stroke
-
Voxel-based dysconnectomic brain morphometry with computed tomography in Down syndrome Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-29 Beatriz Sánchez-Moreno, Linda Zhang, Gloria Mateo, Fernando Moldenhauer, Mikael Brudfors, John Ashburner, Parashkev Nachev, Diego Real de Asúa, Bryan A. Strange
Alzheimer's disease (AD) is a major health concern for aging adults with Down syndrome (DS), but conventional diagnostic techniques are less reliable in those with severe baseline disability. Likewise, acquisition of magnetic resonance imaging to evaluate cerebral atrophy is not straightforward, as prolonged scanning times are less tolerated in this population. Computed tomography (CT) scans can be
-
Infarct-related structural disconnection and delirium in surgical aortic valve replacement patients Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-28 Jeffrey N. Browndyke, Lewis E. Tomalin, Guray Erus, Jessica R. Overbey, Amy Kuceyeski, Alan J. Moskowitz, Emilia Bagiella, Alexander Iribarne, Michael Acker, Michael Mack, Joseph Mathew, Patrick O'Gara, Annetine C. Gelijns, Mayte Suarez-Farinas, Steven R. Messé
Although acute brain infarcts are common after surgical aortic valve replacement (SAVR), they are often unassociated with clinical stroke symptoms. The relationship between clinically “silent” infarcts and in-hospital delirium remains uncertain; obscured, in part, by how infarcts have been traditionally summarized as global metrics, independent of location or structural consequence. We sought to determine
-
Association between structural brain MRI abnormalities and epilepsy in older adults Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-28 James J. Gugger, Alexa E. Walter, Ramon Diaz-Arrastia, Juebin Huang, Clifford R. Jack, Robert Reid, Anna M. Kucharska-Newton, Rebecca F. Gottesman, Andrea L. C. Schneider, Emily L. Johnson
To determine the association between brain MRI abnormalities and incident epilepsy in older adults.
-
Clinicopathological features of graft versus host disease-associated myositis Ann. Clin. Transl. Neur. (IF 5.3) Pub Date : 2023-12-28 Tomoyuki Kazuta, Ayuka Murakami, Seiya Noda, Satoko Hirano, Hiroshi Kito, Koyo Tsujikawa, Hirotaka Nakanishi, Seigo Kimura, Kentaro Sahashi, Haruki Koike, Masahisa Katsuno
Chronic graft versus host disease (GVHD)-associated myositis targeting skeletal muscle is a relatively rare but potentially debilitating complication following allogeneic hematopoietic stem cell transplantation (HSCT). We reviewed the clinicopathological features of GVHD-associated myositis among patients receiving allogeneic HSCT to elucidate the cellular pathogenesis.