Article
Neuroimaging
Joana Feldmann, Pascal Martin, Benjamin Bender, Lucia Laugwitz, Laimdota Zizmare, Christoph Trautwein, Ingeborg Krageloh-Mann, Uwe Klose, Samuel Groeschel
Summary: The study aims to investigate the correlation between MR spectroscopy (MRS) and clinical parameters for motor and cognitive function in patients with metachromatic leukodystrophy (MLD). The results show that MLD spectra differ significantly from controls, with more severe changes in late-infantile patients. N-acetylaspartate (NAA) seems to be the most clinically meaningful biomarker for disease progression in MLD.
NEUROIMAGE-CLINICAL
(2023)
Article
Neurosciences
Thia St Martin, Tania A. Seabrook, Katherine Gall, Jenn Newman, Nancy Avila, April Hayes, Monicah Kivaa, Jason Lotterhand, Michael Mercaldi, Kruti Patel, Israel J. Rivas, Stephen Woodcock, Teresa L. Wright, Albert B. Seymour, Omar L. Francone, Jacinthe Gingras
Summary: This study demonstrates that intravenous administration of HSC15/ARSA can restore the distribution of the corresponding enzyme in patients, and overexpression of ARSA can correct disease biomarkers and improve motor deficits. Compared with intravenously administered AAV9/ARSA, HSC15/ARSA leads to significant increases in brain ARSA activity, transcript levels, and vector genomes. Additionally, the study shows that HSC15/ARSA can cross the blood-nerve, blood-spinal, and blood-brain barriers, and circulating ARSA enzyme activity can be detected in the serum of healthy nonhuman primates.
JOURNAL OF NEUROSCIENCE
(2023)
Article
Oncology
Leandra Piscopo, Carmela Nappi, Fabio Volpe, Valeria Romeo, Emanuele Nicolai, Rosj Gallicchio, Alessia Giordano, Giovanni Storto, Leonardo Pace, Carlo Cavaliere, Marco Salvatore, Alberto Cuocolo, Michele Klain
Summary: The study evaluated the prognostic value of hybrid PET/MR in patients with DTC. The results showed that hybrid PET/MR imaging may improve the information content and offer new opportunities for patients with DTC. However, further clinical studies are needed to understand the additional value in patients with DTC.
Article
Radiology, Nuclear Medicine & Medical Imaging
Christina J. MacAskill, Michael Markley, Susan Farr, Ashlee Parsons, Jacob R. Perino, Kimberly McBennett, Katherine Kutney, Mitchell L. Drumm, Nicole Pritts, Mark A. Griswold, Dan Ma, Katherine M. Dell, Chris A. Flask, Yong Chen
Summary: The study evaluated a rapid kidney MRF technique at 3.0 T in phantoms, healthy volunteers, and patients, demonstrating its accuracy and reliability in assessing kidney T1 and T2 parameters through experiments on standardized phantoms, healthy adult volunteers, and pediatric patients with kidney disease.
Article
Genetics & Heredity
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Gronborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schols, Nicole Wolf
Summary: A group of experts reached consensus on a core set of data elements for a European Metachromatic Leukodystrophy (MLD) registry. The registry will facilitate research, treatment comparisons, and regulatory requirements related to MLD.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Computer Science, Interdisciplinary Applications
Yudu Li, Yibo Zhao, Rong Guo, Tao Wang, Yi Zhang, Matthew Chrostek, Walter C. Low, Xiao-Hong Zhu, Zhi-Pei Liang, Wei Chen
Summary: A novel machine learning-based method was proposed to enhance the sensitivity of DMRSI by effectively denoising, enabling high-resolution dynamic imaging. The method was validated through theoretical analysis, computer simulations, and in vivo experiments, demonstrating its potential in tumor imaging. The integration of physics-based subspace modeling and data-driven deep learning provides a framework for denoising other spatiospectral data.
IEEE TRANSACTIONS ON MEDICAL IMAGING
(2021)
Article
Cardiac & Cardiovascular Systems
Tom Kai Ming Wang, Kevser Akyuz, Reza Reyaldeen, Brian P. Griffin, Zoran B. Popovic, Gosta B. Pettersson, A. Marc Gillinov, Scott D. Flamm, Bo Xu, Milind Y. Desai
Summary: This study aimed to determine the prognostic value and thresholds for echocardiography and CMR parameters in patients with isolated severe TR. It found that CMR-derived tricuspid regurgitant fraction and right ventricle free wall longitudinal strain were independently associated with reduced survival in isolated TR patients. Clinically significant thresholds for these parameters were determined, which may help guide decision-making for TR management.
CIRCULATION-CARDIOVASCULAR IMAGING
(2021)
Article
Oncology
Maikel Verduin, Sergey Primakov, Inge Compter, Henry C. Woodruff, Sander M. J. van Kuijk, Bram L. T. Ramaekers, Maarten te Dorsthorst, Elles G. M. Revenich, Mark ter Laan, Sjoert A. H. Pegge, Frederick J. A. Meijer, Jan Beckervordersandforth, Ernst Jan Speel, Benno Kusters, Wendy W. J. de Leng, Monique M. Anten, Martijn P. G. Broen, Linda Ackermans, Olaf E. M. G. Schijns, Onno Teernstra, Koos Hovinga, Marc A. Vooijs, Vivianne C. G. Tjan-Heijnen, Danielle B. P. Eekers, Alida A. Postma, Philippe Lambin, Ann Hoeben
Summary: This study demonstrates the potential of combining MRI and clinical features for predicting prognosis in GBM patients, with promising but yet to be validated results in predicting tumor markers. Further optimization and prospective studies are needed.
Article
Cell Biology
Neda Gholizadeh, Peter B. Greer, John Simpson, Jonathan Goodwin, Caixia Fu, Peter Lau, Saabir Siddique, Arend Heerschap, Saadallah Ramadan
Summary: The addition of novel H-1 magnetic resonance spectroscopic imaging (MRSI) to routine multiparametric MRI (mp-MRI) significantly improves the diagnostic accuracy of detection and aggressiveness assessment of transition zone prostate cancer, especially when combined with T2-weighted imaging (T2WI), diffusion-weighted imaging (DWI), and quantitative dynamic contrast enhancement (DCE).
JOURNAL OF BIOMEDICAL SCIENCE
(2021)
Article
Chemistry, Multidisciplinary
Lu-Jun Luo, Xiu-Mei Liu, Xiao Zhang, Jiao Liu, Yuanyuan Gao, Tong-Yi Sun, Li-Li Li
Summary: In this study, a sensitive and quantitative MRI method was developed to calculate the aggregation degree (α(agg)), which showed a high fitting degree with the gold standard fluorescence method and contributed to enhanced T-1-weighted MR imaging of M2 macrophages in tumors.
Article
Biochemistry & Molecular Biology
Sally Esmail, Wayne R. Danter
Summary: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disease caused by a deficiency of ARSA enzyme. While there are currently no effective treatments, aiWBO simulations offer a potential to better understand MLD pathogenesis and guide future research.
Article
Multidisciplinary Sciences
Michael C. Babcock, Christina R. Mikulka, Bing Wang, Sanjay Chandriani, Sundeep Chandra, Yue Xu, Katherine Webster, Ying Feng, Hemanth R. Nelvagal, Alex Giaramita, Bryan K. Yip, Melanie Lo, Xuntian Jiang, Qi Chao, Josh C. Woloszynek, Yuqiao Shen, Shripad Bhagwat, Mark S. Sands, Brett E. Crawford
Summary: A selective small molecule inhibitor that reduces toxic substance levels in the nervous system has shown potential therapeutic effects in mouse models, but exhibited negative impacts in wild-type mice, indicating the need for further research.
SCIENTIFIC REPORTS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Daniel J. West, Gastao Cruz, Rui P. A. G. Teixeira, Torben Schneider, Jacques-Donald Tournier, Joseph Hajnal, Claudia Prieto, Shaihan J. Malik
Summary: This study introduces a technique to characterize MT and ihMT properties from a single acquisition, enhancing contrast by cycling between multiband and single-band RF pulses. The method can generate contrast maps specific to white matter and provide quantitative estimates for macromolecular-specific tissue parameters.
MAGNETIC RESONANCE IN MEDICINE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Xiao-Quan Xu, Yue Chu, Guang-Chen Shen, Gao Ma, Shan-Shan Lu, Sheng Liu, Hai-Bin Shi, Fei-Yun Wu
Summary: This study assessed the prognostic value of post-treatment DWI ASPECTS in predicting the clinical outcome of AIS patients after EVT, and found that both DWI ASPECTS and infarction volume were independent predictors of good clinical outcome, with high accuracy.
EUROPEAN RADIOLOGY
(2022)
Article
Neurosciences
Rui He, Jia Zhou, Xiaoyu Xu, Xiaoer Wei, Feng Wang, Yuehua Li
Summary: This study investigated the prediction of long-term clinical outcomes after ischemic stroke using parametric response mapping (PRM) based on perfusion MRI data. The results showed that PRMTmax-, PRMrCBV-, and PRMrCBV+ at the V3 time point were superior in predicting clinical outcomes at V5, highlighting the superiority of PRM over the whole-lesion approach for long-term clinical outcome prediction.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Clinical Neurology
Menno D. Stellingwerff, Corinne Nulton, Guy Helman, Stefan D. Roosendaal, William S. Benko, Amy Pizzino, Marianna Bugiani, Adeline Vanderver, Cas Simons, Marjo S. van der Knaap
Summary: This study describes three patients who presented at an early age with a vascular leukoencephalopathy, and genetic sequencing revealed bi-allelic variants in the NOTCH3 gene. The disease course is characterized by cognitive impairment, recurrent strokes, migraines, and seizures.
Article
Biophysics
Antoine Klauser, Paul Klauser, Frederic Grouiller, Sebastien Courvoisier, Francois Lazeyras
Summary: The study achieved fast acquisition and reconstruction of 3D high-resolution whole-brain MRSI using innovative techniques, providing a feasible method for clinical and research purposes.
NMR IN BIOMEDICINE
(2022)
Article
Medicine, Research & Experimental
Anne E. J. Hillen, Martina Hruzova, Tanja Rothgangl, Marjolein Breur, Marianna Bugiani, Marjo S. van der Knaap, Gerald Schwank, Vivi M. Heine
Summary: This study tested a dual-AAV approach for gene therapy in VWM mice using CRISPR/Cas9, but found that the DNA repair induced by CRISPR/Cas9 was mainly insertion or deletion mutations, which did not lead to sufficient correction of the VWM variant. Moreover, the indel formation in Eif2b5 may cause additional issues, suggesting that other gene editing technologies like base- or prime editing might be better suited for VWM correction.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2022)
Editorial Material
Genetics & Heredity
Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Kraegeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink
Summary: Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes EIF2B1-EIF2B5. It is characterized by chronic neurologic deterioration with superimposed stress-provoked episodes of rapid decline. VWM is rare, but likely underdiagnosed, particularly in adults. With increased insight into VWM disease mechanisms, opportunities for treatment have emerged. However, clinical trials in VWM pose considerable challenges: low numbers of known patients, unpredictable disease course, absence of intermediate biomarkers, and novel first-in-human molecular targets.
NEUROLOGY-GENETICS
(2022)
Letter
Clinical Neurology
S. D. Roosendaal, M. S. van der Knaap
AMERICAN JOURNAL OF NEURORADIOLOGY
(2022)
Article
Clinical Neurology
Shanice Beerepoot, Nicole I. Wolf, Katharina Wehner, Benjamin Bender, Ingeborg Kraegeloh-Mann, Samuel Groeschel, Marjo S. van der Knaap
Summary: Strabismus may be an early sign in patients with late-infantile MLD, with a prevalence of 27%. The onset of strabismus may precede gross motor symptoms and brain white matter abnormalities, and can be accompanied by other eye movement abnormalities. Important characteristics include acute-onset paralytic esotropia, partly accompanied by other eye movement abnormalities, and gadolinium enhancement of the cranial nerves.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Neurosciences
Karim Gariani, Antoine Klauser, Maria Isabel Vargas, Francois Lazeyras, Christel Tran
Summary: Hyperinsulinism/hyperammonemia syndrome (HI/HA) is caused by activating mutations in the GLUD1 gene, leading to insulin overproduction and chronic asymptomatic hyperammonemia. Brain magnetic resonance imaging in HI/HA patients shows differences in brain biochemistry compared to other hyperammonemia disorders, with normal levels of combined glutamate and glutamine.
Article
Clinical Neurology
Woutje M. Berdowski, Herma C. van der Linde, Marjolein Breur, Nynke Oosterhof, Shanice Beerepoot, Leslie Sanderson, Lieve I. Wijnands, Patrick de Jong, Elisa Tsai-Meu-Chong, Walter de Valk, Moniek de Witte, Wilfred F. J. van IJcken, Jeroen Demmers, Marjo S. van der Knaap, Marianna Bugiani, Nicole I. Wolf, Tjakko J. van Ham
Summary: Tissue-resident macrophages, including microglia, in the brain are involved in the pathogenesis of CNS disorders and can be potential therapeutic targets. Heterozygous variants in CSF1R gene may lead to microglial depletion and adult-onset leukoencephalopathy. Through zebrafish models, it was found that these variants negatively affect the number of microglia in brain development.
ACTA NEUROPATHOLOGICA
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Julien Songeon, Sebastien Courvoisier, Lijing Xin, Thomas Agius, Oscar Dabrowski, Alban Longchamp, Francois Lazeyras, Antoine Klauser
Summary: This study introduces a new artificial intelligence framework, 31P-SPAWNN, for analyzing phosphorus-31 (P-31) magnetic resonance spectra. The experiment demonstrates the reliability and accuracy of 31P-SPAWNN in estimating metabolite concentrations and spectral parameters. It also shows that 31P-SPAWNN has improved quantification and processing time compared to traditional methods.
MAGNETIC RESONANCE IN MEDICINE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Oscar Dabrowski, Sebastien Courvoisier, Jean-Luc Falcone, Antoine Klauser, Julien Songeon, Michel Kocher, Bastien Chopard, Francois Lazeyras
Summary: MRI is a non-invasive medical imaging modality that is sensitive to patient motion. This study presents a methodology for acquiring reproducible motion-corrupted MRI images and validating the system's performance through motion estimation using rigid-body volume registration. The proposed protocol is versatile and can potentially benefit the MRI and artificial intelligence research communities.
PHYSICA MEDICA-EUROPEAN JOURNAL OF MEDICAL PHYSICS
(2022)
Article
Clinical Neurology
Stephanie Dooves, Liza M. L. Kok, Dwayne B. Holmes, Nicole Breeuwsma, Marjolein Breur, Marianna Bugiani, Nicole Wolf, Vivi M. Heine
Summary: Using iPSC-derived cultures, researchers found reduced ARX expression, increased neuronal network activity, and altered development of interneurons-particularly parvalbumin lineage-in patients with 4H leukodystrophy, a rare white matter disorder. 4H is a rare genetic disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. The discovery of the role of RNA polymerase III mutations in 4H has expanded the understanding of the disease beyond its classic phenotype. This study's importance rating is 8 out of 10.
Article
Clinical Neurology
Doriana Misceo, Lisa Lirussi, Petter Stromme, Dulika Sumathipala, Andrea Guerin, Nicole Wolf, Andres Server, Maria Stensland, Bjorn Dalhus, Aslihan Tolun, Hester Y. Kroes, Tuula A. Nyman, Hilde L. Nilsen, Eirik Frengen
Summary: This study reports two patients with leukodystrophy and cerebellar atrophy caused by defective POLR1A. Experiments in patient fibroblasts reveal abnormalities in nucleolar homeostasis, protein homeostasis, and endoplasmic reticulum stress responses, providing new insights into the pathogenesis of POLR1A-related leukodystrophy.
Article
Clinical Neurology
Lucas Bastian Amedick, Pascal Martin, Judith Beschle, Manuel Stroelin, Marko Wilke, Nicole Wolf, Petra Pouwels, Gisela Hagberg, Uwe Klose, Thomas Naegele, Ingeborg Kraegeloh-Mann, Samuel Groeschel
Summary: Routine MR diffusion tensor imaging can provide valuable information for assessing the prognosis and progression of MLD, in addition to established methods such as T2 hyperintensity.
Article
Clinical Neurology
Francesco Gavazzi, Virali Patel, Brittany Charsar, Allan Glanzman, Jacqueline Erler, Anjana Sevagamoorthy, Emma McKenzie, Tracy Kornafel, Elizabeth Ballance, Samuel R. Pierce, Michelle Teng, Brielle Formanowski, Sarah Woidill, Justine Shults, Evangeline Wassmer, Davide Tonduti, Francesca Magrinelli, Genevieve Bernard, Marjo van der Knaap, Nicole Wolf, Laura Adang, Adeline Vanderver
Summary: TUBB4A pathogenic variants are associated with a range of neurologic impairments. Validated tools for assessing mobility impairment are needed. This study examines gross motor function in pediatric-onset TUBB4A-related leukodystrophy using existing outcome measures.
JOURNAL OF CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Menno D. Stellingwerff, Murtadha L. Al-Saady, Kwok-Shing Chan, Adam Dvorak, Jose P. Marques, Shannon Kolind, Stefan D. Roosendaal, Nicole I. Wolf, Frederik Barkhof, Marjo S. van der Knaap, Petra J. W. Pouwels
Summary: This study demonstrates that MCR-DIMWI, METRICS, and NODDI are sensitive techniques for detecting changes in tissue microstructure in WM disorders. Differences between patients and controls were more pronounced in WM regions of interest than in deep GM. MCR-DIMWI-derived myelin water fractions showed more homogeneity and bilateral symmetry compared to METRICS.
JOURNAL OF NEUROIMAGING
(2023)