Article
Clinical Neurology
Daniela Di Bella, Stefania Magri, Chiara Benzoni, Laura Farina, Carmelo Maccagnano, Elisa Sarto, Marco Moscatelli, Silvia Baratta, Claudia Ciano, Sylvie H. M. J. Piacentini, Lara Draghi, Elena Mauro, Davide Pareyson, Cinzia Gellera, Franco Taroni, Ettore Salsano
Summary: This study found that hypomyelinating leukodystrophies are present in a significant proportion of undefined leukoencephalopathies in adults, with key features including spastic gait and cognitive impairment. Genetic screening plays a crucial role in providing a definite diagnosis for about half of the patients, revealing a variety of disease-causing genes involved in different types of disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Monica N. Toba, Chiara Pagliari, Marco Rabuffetti, Norbert Nighoghossian, Gilles Rode, Francois Cotton, Lucia Spinazzola, Francesca Baglio, Raffaella Migliaccio, Paolo Bartolomeo
Summary: Differential actigraphy is a novel and objective method for quantifying motor neglect. The study found that some patients with unilateral stroke exhibit contralesional motor neglect, while the variability in lesion location suggests that motor neglect is a heterogeneous condition.
Article
Multidisciplinary Sciences
Nacim Betrouni, Caroline Moreau, Anne-Sophie Rolland, Nicolas Carriere, Marie Chupin, Gregory Kuchcinski, Renaud Lopes, Romain Viard, Luc Defebvre, David Devos
Summary: The study highlights the potential use of texture features in the nigrostriatal pathway as a predictor for clinical progression in motor handicap at the diagnosis of Parkinson's disease, adding to the growing need for surrogate biomarkers in PD.
SCIENTIFIC REPORTS
(2021)
Article
Biology
Saloni Krishnan, Gabriel J. Cler, Harriet J. Smith, Hanna E. Willis, Salomi S. Asaridou, Mairead P. Healy, Daniel Papp, Kate E. Watkins
Summary: This study used a novel imaging protocol to investigate microstructural neural differences in children with DLD, revealing lower MTsat values in certain brain regions and globally lower R1 values in DLD children, suggesting the presence of microstructural abnormalities.
Article
Neurosciences
Giovanni Piantoni, Dora Hermes, Nick Ramsey, Natalia Petridou
Summary: ECoG is used to identify seizure focus and brain functions for surgical resection in epilepsy patients. Understanding the spatial smoothness of BOLD signal is crucial for optimal integration of fMRI and ECoG.
Article
Neuroimaging
Menno D. Stellingwerff, Petra J. W. Pouwels, Stefan D. Roosendaal, Frederik Barkhof, Marjo S. van der Knaap
Summary: Leukodystrophies are genetic diseases that affect the white matter of the central nervous system. Different disorders target different components of white matter. They are usually progressive and fatal, but recent advances in therapy offer hope. Quantitative MRI can provide objective and noninvasive measures of white matter involvement, aiding in the evaluation and monitoring of leukodystrophies.
NEUROIMAGE-CLINICAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Pegah Masrori, Donatienne Van Weehaeghe, Koen Van Laere, Philip Van Damme
Summary: This case illustrates the significant role of imaging in the diagnostic work-up of complex neurological disorders, providing important assistance in the diagnosis process.
JOURNAL OF NUCLEAR MEDICINE
(2021)
Article
Clinical Neurology
Alessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, Chiara Paganini, Catherine Vanhulle, Walid Haouari, Nerea Gorria-Redondo, Elena Aznal-Sainz, Nathalie Boddaert, Laura Planas-Serra, Agatha Schluter, Valentina Velez-Santamaria, Edgard Verdura, Arnaud Bruneel, Antonio Rossi, Celine Huber, Aurora Pujol, Valerie Cormier-Daire
Summary: Guasto et al. report that functional impairment of SLC35B2 causes a novel syndromic chondrodysplasia with hypomyelinating leukodystrophy, most likely through a proteoglycan sulphation defect. This is the first time that SLC35B2 variants have been associated with bone and brain development in humans.
Article
Clinical Neurology
Tahmina Khawajazada, Konni Kass, Karen Rudolf, Josefine Stricker Borch, Aisha Munawar Sheikh, Nanna Witting, John Vissing
Summary: The study found that men with ANO5 deficiency exhibit severe fat replacement in lower extremity muscles, while women are less affected and show more symmetric muscle involvement.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jing Lv, Yue Xu, Ling Xu, Liming Nie
Summary: The study used dynamic contrast-enhanced photoacoustic imaging to monitor liver fibrosis in mice, finding that the parameters correlated positively with histopathologic analysis results.
Article
Biology
Tomas Mediavilla, Ozgun Ozalay, Hector M. Estevez-Silva, Barbara Frias, Greger Oradd, Fahad R. Sultan, Claudio Brozzoli, Benjamin Garzon, Martin Lovden, Daniel J. Marcellino
Summary: Observations in rodents suggest that learning-dependent changes may involve increased dendritic spine density, alterations in astrocyte volume, and adaptations within intracortical myelin. Using a motor skill learning paradigm, this study found nonlinear increases in intracortical myelin during learning, supporting the hypothesis that myelin is a component of structural changes observed by voxel-based morphometry.
Article
Clinical Neurology
Edgard Verdura, Agusti Rodriguez-Palmero, Valentina Velez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O'Leary, Emily O'Heir, Estibaliz Barredo, Almudena Chacon, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schluter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marce-Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis Gonzalez Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol
Summary: Phosphoinositides are lipid molecules crucial for cellular signaling, ion channel activity, and membrane trafficking. Mutations in genes encoding proteins involved in their metabolism, such as the phosphoinositide kinase PI4KA, can lead to severe neurological or developmental disorders. This study identified 10 patients with biallelic variants in PI4KA, causing a range of conditions from global neurodevelopmental delay to spastic paraplegia, highlighting the importance of phosphoinositide signaling in human brain development and myelin sheath formation.
Article
Radiology, Nuclear Medicine & Medical Imaging
Lijia Zhang, Susan Ellor, Jessica M. Sun, Chunlei Liu, Joanne Kurtzburg, Allen W. Song
Summary: This study utilized quantitative susceptibility mapping (QSM) to analyze pediatric CP patients who underwent autologous umbilical cord blood stem-cell therapy. The changes in magnetic susceptibility and susceptibility anisotropy along the corticospinal tracts were found to be associated with behavioral improvements, suggesting the potential of QSM in evaluating treatment outcomes for CP children.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Tao Lu, Yishuang Wang, Aiwen Guo, Yan Deng, Chengqian Wu, Xiangqi Li, Siyun Liu
Summary: Placental thickness measured from MRI images is correlated with placenta percreta in patients with placenta previa. Placental thickness is the only independent risk factor for placenta percreta and can be used to differentiate it.
ABDOMINAL RADIOLOGY
(2022)
Article
Clinical Neurology
Eduardo P. Estephan, Antonio A. Zambon, Rachel Thompson, Kiran Polavarapu, Danny Jomaa, Ana Topf, Paulo V. P. Helito, Carlos O. Heise, Cristiane A. M. Moreno, Andre M. S. Silva, Joao A. Kouyoumdjian, Maria da Penha Morita, Umbertina C. Reed, Hanns Lochmuller, Edmar Zanoteli
Summary: This study focused on phenotype features and the correlation with molecular diagnosis of congenital myasthenic syndromes (CMS) patients, showing a higher chance of confirmed molecular diagnosis in group A and a lower chance in group C. It was found that some individual clinical features, alterations on biopsy, and electrophysiology can enhance the specificity for CMS diagnosis.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Rosa Cortese, Ferran Prados Carrasco, Carmen Tur, Alessia Bianchi, Wallace Brownlee, Floriana De Angelis, Isabel de la Paz, Francesco Grussu, Lukas Haider, Anu Jacob, Baris Kanber, Lise Magnollay, Richard S. Nicholas, Anand Trip, Marios Yiannakas, Ahmed T. Toosy, Yael Hacohen, Frederik Barkhof, Olga Ciccarelli
Summary: This study investigated whether imaging characteristics could differentiate between relapsing-remitting multiple sclerosis (RRMS), aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder (AQP4-NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). The results showed that the proportion of lesions with the central vein sign (CVS) was the most accurate measure to differentiate RRMS from AQP4-NMOSD, while white matter lesions were the most accurate measure to discriminate RRMS from MOGAD.
Letter
Clinical Neurology
P. M. Cogswell, C. R. Jack Jr, J. A. Barakos, F. Barkhof, T. S. Benzinger, C. A. Raji, T. Y. Poussaint, V. K. Ramanan, C. T. Whitlow
AMERICAN JOURNAL OF NEURORADIOLOGY
(2023)
Review
Clinical Neurology
Zoe Mendelsohn, Hugh G. Pemberton, James Gray, Olivia Goodkin, Ferran Prados Carrasco, Michael Scheel, Jawed Nawabi, Frederik Barkhof
Summary: This article provides a systematic review of commercial QReports for multiple sclerosis (MS), highlighting limited evidence regarding clinical validation and in-use evaluation, particularly the lack of clinician end-user testing. The review aims to provide clinicians and institutions with the available evidence when considering adopting a quantitative reporting tool for MS.
Review
Clinical Neurology
Lyduine E. Collij, Gill Farrar, David Vallez Garcia, Ilona Bader, Mahnaz Shekari, Luigi Lorenzini, Hugh Pemberton, Daniele Altomare, Sandra Pla, Mery Loor, Pawel Markiewicz, Maqsood Yaqub, Christopher Buckley, Giovanni B. Frisoni, Agneta Nordberg, Pierre Payoux, Andrew Stephens, Rossella Gismondi, Pieter Jelle Visser, Lisa Ford, Mark Schmidt, Cindy Birck, Jean Georges, Anja Mett, Zuzana Walker, Merce Boada, Alexander Drzezga, Rik Vandenberghe, Bernard Hanseeuw, Frank Jessen, Michael Scholl, Craig Ritchie, Isadora Lopes Alves, Juan Domingo Gispert, Frederik Barkhof, AMYPAD Consortium
Summary: Amyloid Imaging to Prevent Alzheimer's Disease (AMYPAD) consortium aims to provide evidence on the clinical utility and cost-effectiveness of Positron Emission Tomography (PET) imaging in AD diagnosis and support clinical trial design. AMYPAD has contributed significantly to understanding of amyloid deposition in the brain and improving measurement methodology. Future steps include integrating and curating available clinical data for wider scientific access.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Floor C. Loonstra, Lodewijk R. J. de Ruiter, Marleen J. A. Koel-Simmelink, Menno M. Schoonheim, Eva M. M. Strijbis, Bastiaan Moraal, Frederik Barkhof, Bernard M. J. Uitdehaag, Charlotte Teunissen, Joep Killestein
Summary: This study explores the association between novel blood biomarkers (sNfL, sGFAP, and sCNTN1) and disability outcome measures and MRI volumes in people with multiple sclerosis (MS). The results indicate that sNfL and sGFAP are associated with disease progression, while sCNTN1 is not related to clinical or MRI measures.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Clinical Neurology
Heinz Wiendl, Klaus Schmierer, Suzanne Hodgkinson, Tobias Derfuss, Andrew Chan, Finn Sellebjerg, Anat Achiron, Xavier Montalban, Alexandre Prat, Nicola De Stefano, Frederik Barkhof, Letizia Leocani, Patrick Vermersch, Anita Chudecka, Claire Mwape, Kristina H. Holmberg, Ursula Boschert, Sanjeev Roy, MAGNIFY-MS Study Grp
Summary: Cladribine tablets cause a reduction in lymphocytes, with a predominant effect on B-cell and T-cell counts. The MAGNIFY-MS substudy reports the dynamic changes on multiple peripheral blood mononuclear cell (PBMC) subtypes and immunoglobulin (Ig) levels over 12 months after the first course of cladribine tablets in patients with highly active relapsing multiple sclerosis (MS).
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Neurosciences
Anna Inguanzo, Konstantinos Poulakis, Rosaleena Mohanty, Christopher G. Schwarz, Scott A. Przybelski, Patricia Diaz-Galvan, Val J. Lowe, Bradley F. Boeve, Afina W. Lemstra, Marleen van de Beek, Wiesje van der Flier, Frederik Barkhof, Frederic Blanc, Paulo Loureiro de Sousa, Nathalie Philippi, Benjamin Cretin, Catherine Demuynck, Zuzana Nedelska, Jakub Hort, Barbara Segura, Carme Junque, Ketil Oppedal, Dag Aarsland, Eric Westman, Kejal Kantarci, Daniel Ferreira
Summary: Using MRI data, we identified three subtypes of Dementia with Lewy bodies (DLB): older subtype with reduced cortical GM volumes and worse cognition, subtype with low GM volumes in fronto-occipital regions, and a younger subtype with the highest cortical GM volumes, lower GM volumes in basal ganglia, and cognitive fluctuations. These subtypes have implications for clinical practice, research, and treatment decisions.
NPJ PARKINSONS DISEASE
(2023)
Review
Clinical Neurology
Ariane G. Bollack, Hugh G. E. Pemberton, Lyduine E. Collij, Pawel M. Markiewicz, David M. Cash, Gill Farrar, Frederik Barkhof
Summary: This review summarizes the current design and methodologies of longitudinal PET studies, utilizing positron emission tomography to quantify amyloid and tau pathology. The intrinsic variability of AD protein load over time and technical factors contributing to PET measurement uncertainty are detailed. Suggestions for mitigating these factors, including leveraging shared information between serial scans, are provided.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Liu Shi, Jin Xu, Rebecca Green, Asger Wretlind, Jan Homann, Noel J. Buckley, Betty M. Tijms, Stephanie J. B. Vos, Christina M. Lill, Mara ten Kate, Sebastiaan Engelborghs, Kristel Sleegers, Giovanni B. Frisoni, Anders Wallin, Alberto Lleo, Julius Popp, Pablo Martinez-Lage, Johannes Streffer, Frederik Barkhof, Henrik Zetterberg, Pieter Jelle Visser, Simon Lovestone, Lars Bertram, Alejo J. Nevado-Holgado, Petroula Proitsi, Cristina Legido-Quigley
Summary: This study employed an integrative system and causal inference approach to explore molecular signatures in blood and CSF, the AT(N) framework, MCI conversion to AD, and genetic risk for AD. Using the EMIF-AD cohort, the researchers measured proteins and metabolites in blood and CSF, as well as genotyped whole-blood samples. They found associations between AT(N) framework and protein/lipid hubs, and identified Proprotein Convertase Subtilisin/Kexin Type 7 as a potential causative factor for AD.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Emma M. Coomans, Jori Tomassen, Rik Ossenkoppele, Betty M. Tijms, Luigi Lorenzini, Mara ten Kate, Lyduine E. Collij, Fiona Heeman, Roos M. Rikken, Sophie M. van der Landen, Marijke E. den Hollander, Sandeep S. Golla, Maqsood Yaqub, Albert D. Windhorst, Frederik Barkhof, Philip Scheltens, Eco J. C. de Geus, Pieter Jelle Visser, Bart N. M. van Berckel, Anouk den Braber
Summary: The amyloid cascade hypothesis has played a significant role in Alzheimer's disease research and clinical trial designs. This study investigated the relationship between amyloid-beta and tau at the individual and twin-pair levels, aiming to rule out genetic and shared environmental effects as confounders. The findings suggest that the associations between amyloid-beta, tau, neurodegeneration, and cognition are unbiased by genetic factors, and the effects of amyloid-beta on neurodegeneration and cognitive decline are mediated by tau.
Article
Clinical Neurology
Diana I. Bocancea, Anna L. Svenningsson, Anna C. van Loenhoud, Colin Groot, Frederik Barkhof, Olof Strandberg, Ruben Smith, Renaud La Joie, Howard J. Rosen, Michael J. Pontecorvo, Gil D. Rabinovici, Wiesje M. van der Flier, Oskar Hansson, Rik Ossenkoppele
Summary: The mechanisms of resilience against tau pathology in Alzheimer's disease spectrum are not well understood. This longitudinal study investigates the factors that contribute to cognitive and brain resilience against tau pathology and finds that education is the most important determinant of resilience. However, resilience may be depleted in advanced stages of the disease.
Article
Neurosciences
Hanyi Chen, Alexandra Young, Neil P. Oxtoby, Frederik Barkhof, Daniel C. Alexander, Andre Altmann
Summary: This study examines the generalisability of data-driven Alzheimer's disease (AD) progression models using the SuStaIn algorithm. The results show consistent subtypes of atrophy in both datasets and high consistency in individuals' subtypes and stage assignments. The study also reveals associations between AD atrophy subtypes and risk factors.
Editorial Material
Clinical Neurology
Frederik Barkhof, David S. Knopman
Summary: One puzzling observation in Alzheimer's disease therapeutic trials is that treatment with anti-amyloid-beta agents does not preserve brain volume. In a recent study, Alves et al. conducted a meta-analysis and found that these agents do not slow the rate of brain volume loss. In fact, depending on the drug class, they can even accelerate loss of whole-brain and hippocampal volume and increase ventricular volume.
Article
Neurosciences
Ariane Bollack, Pawel J. Markiewicz, Alle Meije Wink, Lloyd Prosser, Johan Lilja, Pierrick Bourgeat, Jonathan M. Schott, William Coath, Lyduine E. Collij, Hugh G. Pemberton, Gill Farrar, Frederik Barkhof, David M. Cash
Summary: This study evaluated the performance of four novel data-driven metrics against conventional techniques for quantifying amyloid-beta (Aβ) pathology. The results showed that the Aβ load, Aβ index, and CLNMF metrics can provide comparable performance to established quantification methods. These new metrics may offer more precise alternatives and further studies in larger cohorts should be conducted.
Article
Clinical Neurology
Emma M. Coomans, Lotte A. de Koning, Roos M. Rikken, Sander C. J. Verfaillie, Denise Visser, Anouk den Braber, Jori Tomassen, Marleen van de Beek, Lyduine E. Collij, Afina W. Lemstra, Albert D. Windhorst, Frederik Barkhof, Sandeep S. V. Golla, Pieter Jelle Visser, Philip Scheltens, Wiesje M. van der Flier, Rik Ossenkoppele, Bart N. M. van Berckel, Elsmarieke van de Giessen
Summary: This study evaluated the performance of the visual read method in participants along the AD continuum and dementia with Lewy bodies (DLB), showing excellent inter-reader agreement, strong correspondence with semiquantification, and associations with clinically relevant variables. The visual read status remained stable over a two-year follow-up period and was associated with a decline in Mini-Mental State Examination scores, indicating its reliability and prognostic potential. Future studies in unselected cohorts are needed for better generalizability to the clinical population.