Article
Behavioral Sciences
Juichi Fujimori, Kazuo Fujihara, Mike Wattjes, Ichiro Nakashima
Summary: The study found that cortical gray matter thickness reduction patterns in multiple sclerosis (MS) patients are mainly characterized by the degree of temporal lobe cortical atrophy, which may start in the relapsing-remitting phase. As the disease progresses, neurodegenerative changes in the temporal pole region may accelerate in the progressive phase.
BRAIN AND BEHAVIOR
(2021)
Article
Neurosciences
Emilie Lommers, Camille Guillemin, Gilles Reuter, Eve Fouarge, Gael Delrue, Fabienne Collette, Christian Degueldre, Evelyne Balteau, Pierre Maquet, Christophe Phillips
Summary: This study utilized a quantitative multiparametric voxel-based approach to reveal three different configurations of GM microstructural/volumetric alterations in MS patients, including GM atrophy with reduction in MT, R1, and/or R2* in primary cortices, microstructural modifications without significant GM loss in hippocampus and paralimbic cortices, and atrophy without significant change in microstructure in deep GM nuclei.
HUMAN BRAIN MAPPING
(2021)
Article
Neuroimaging
Charidimos Tsagkas, Emanuel Geiter, Laura Gaetano, Yvonne Naegelin, Michael Amann, Katrin Parmar, Athina Papadopoulou, Jens Wuerfel, Ludwig Kappos, Till Sprenger, Cristina Granziera, M. Mallar Chakravarty, Stefano Magon
Summary: This study investigates the longitudinal changes in deep gray matter (DGM) shape in relapse-onset multiple sclerosis (MS) and their relationship with clinical disability and white matter lesion-load. The study finds specific shape changes in DGM structures over time, but these changes are not associated with disease progression. However, there is a link between DGM shape and average disease severity as well as white matter lesion-load.
NEUROIMAGE-CLINICAL
(2022)
Article
Clinical Neurology
Mahmoud A. AbdelRazek, Subhash Tummala, Fariha Khalid, Shahamat Tauhid, Youmna Jalkh, Samar Khalil, Shelley Hurwitz, Jonathan Zurawski, Rohit Bakshi
Summary: This study compared gray matter atrophy in patients with multiple sclerosis (MS) treated with glatiramer acetate (GA) and patients with clinically benign MS (BMS). The results showed that there was no significant change in gray matter and whole brain atrophy in the GA group over 2 years, similar to the BMS group.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2023)
Article
Neurosciences
Qiyuan Zhu, Zichun Yan, Zhuowei Shi, Dan Luo, Shuang Ding, Xiaoya Chen, Yongmei Li
Summary: Specific biomarkers for cortical gray matter (cGM) pathology in multiple sclerosis (MS) are needed to understand the disease progression. Our study evaluated the association between different types of cortical lesions and cGM damage using diffusion kurtosis imaging (DKI) and diffusion tensor imaging (DTI). We found that kurtosis fractional anisotropy (KFA) was the most sensitive in characterizing cGM damage, and leukocortical lesion (LCL) volume was more related to cGM damage.
Review
Cell & Tissue Engineering
Foteini Tsouki, Anna Williams
Summary: The review highlights the significant role of microglia in gray matter changes in MS, particularly in neuronal loss and cortical atrophy. Microglia exhibit regional heterogeneity within the central nervous system, showing their ability to provide context-dependent responses tailored to the demands of their microenvironment.
Article
Radiology, Nuclear Medicine & Medical Imaging
Xiaoya Chen, Dan Luo, Qiao Zheng, Yuling Peng, Yongliang Han, Qi Luo, Qiyuan Zhu, Tianyou Luo, Yongmei Li
Summary: This study investigated the correlation between choroid plexus volume and whole brain morphology in patients with MS and NMOSD. The findings showed that choroid plexus volumes were increased in the MS group but not in the NMOSD group. MS patients also exhibited reduced cortical thickness and increased ventricle system volume, while NMOSD patients showed increased third ventricle volume. Furthermore, the enlarged choroid plexus was associated with reduced cortical thickness in the MS group.
EUROPEAN RADIOLOGY
(2023)
Article
Clinical Neurology
Daniel Ontaneda, Praneeta C. Raza, Kedar R. Mahajan, Douglas L. Arnold, Michael G. Dwyer, Susan A. Gauthier, Douglas N. Greve, Daniel M. Harrison, Roland G. Henry, David K. B. Li, Caterina Mainero, Wayne Moore, Sridar Narayanan, Jiwon Oh, Raihaan Patel, Daniel Pelletier, Alexander Rauscher, William D. Rooney, Nancy L. Sicotte, Roger Tam, Daniel S. Reich, Christina J. Azevedo
Summary: Multiple sclerosis is not only a white matter disease, but also involves grey matter injury, especially in deep grey matter regions. The deep grey matter is uniquely suited for studying the mechanisms and clinical relevance of tissue injury in multiple sclerosis using magnetic resonance techniques. MRI characterization of deep grey matter properties has potential as clinical trial end points for neurodegenerative aspects of multiple sclerosis.
Article
Clinical Neurology
Markus Lauerer, Matthias Bussas, Viola Pongratz, Achim Berthele, Jan S. Kirschke, Benedikt Wiestler, Claus Zimmer, Bernhard Hemmer, Mark Muehlau
Summary: Brain atrophy in multiple sclerosis (MS) is measured by percentage brain volume change (PBVC) from MRI and is an important outcome parameter in clinical trials. In this study of 600 patients with relapsing-remitting MS, multiple regression analysis revealed that PBVC mainly reflects volume loss of white and cortical gray matter, while deep gray matter and white matter lesions have a lesser impact. These findings enhance our understanding of PBVC changes in MS.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Neurosciences
Suyog Pol, Serena Liang, Ferdinand Schweser, Ravendra Dhanraj, Anna Schubart, Marilena Preda, Michele Sveinsson, Deepa P. Ramasamy, Michael G. Dwyer, Gisbert Weckbecker, Robert Zivadinov
Summary: The study revealed that treatment with anti-CD20 antibody delayed brain tissue neurodegeneration in the gray matter of huMOG-EAE mice, showing clinical benefits on measures of disease severity.
EXPERIMENTAL NEUROLOGY
(2021)
Article
Clinical Neurology
Serena Ruggieri, Maria Petracca, Laura De Giglio, Francesca De Luca, Costanza Gianni, Flavia Gurreri, Nikolaos Petsas, Silvia Tommasin, Carlo Pozzilli, Patrizia Pantano
Summary: The study found that brain and spinal cord atrophy in multiple sclerosis have a significant impact on disability worsening. The presence of both brain and spinal cord atrophy is the strongest correlate of disability progression over time, while isolated spinal cord atrophy also leads to disability worsening.
JOURNAL OF NEUROLOGY
(2021)
Article
Behavioral Sciences
Marlene Tahedl, Tun Wiltgen, Cui Ci Voon, Achim Berthele, Jan S. Kirschke, Bernhard Hemmer, Mark Muehlau, Claus Zimmer, Benedikt Wiestler
Summary: This study demonstrates that the mosaic approach (MAP) shows high potential as a clinically relevant biomarker in MS, surpassing existing methods in computing cortical disease burden in single patients. MAP outputs brain maps illustrating individual cortical disease burden which can be directly interpreted in daily clinical routine.
BRAIN AND BEHAVIOR
(2023)
Article
Clinical Neurology
Jenny A. Nij Bijvank, Sam N. Hof, Stefanos E. Prouskas, Menno M. Schoonheim, Bernard M. J. Uitdehaag, Laurentius J. van Rijn, Axel Petzold
Summary: Double-step saccades can serve as a robust metric for evaluating clinical, cognitive, and visual functioning, as well as global and local grey matter atrophy in multiple sclerosis, making it a potential new outcome measure for remyelination trials.
Article
Clinical Neurology
Paolo Preziosa, Elisabetta Pagani, Alessandro Meani, Olga Marchesi, Lorenzo Conti, Andrea Falini, Maria A. Rocca, Massimo Filippi
Summary: Using diffusion tensor and neurite orientation dispersion and density imaging (NODDI), this study found that neuro-axonal damage and loss of microarchitecture integrity in focal WM lesions, NAWM, and GM contribute to cognitive impairment in MS.
JOURNAL OF NEUROLOGY
(2023)
Review
Psychology, Clinical
Yuan Cao, Wei Diao, Fangfang Tian, Feifei Zhang, Laichang He, Xipeng Long, Fuqinq Zhou, Zhiyun Jia
Summary: Gray matter atrophy is associated with disability and cognitive impairment in multiple sclerosis, and differences in atrophy patterns between relapsing-remitting and primary progressive MS were identified. Specific gray matter regions were associated with disease characteristics in RRMS and PPMS, suggesting common and distinct pathogenesis between the two types of MS.
NEUROPSYCHOLOGY REVIEW
(2021)
Article
Biochemistry & Molecular Biology
Syed K. Rafi, Alberto Fernandez-Jaen, Sara Alvarez, Owen W. Nadeau, Merlin G. Butler
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2019)
Article
Behavioral Sciences
I Rincon-Perez, V Echeverry-Alzate, A. J. Sanchez-Carmona, K. M. Buhler, J. A. Hinojosa, J. A. Lopez-Moreno, J. Albert
BEHAVIOURAL BRAIN RESEARCH
(2020)
Article
Genetics & Heredity
Ana Jimenez de Domingo, Sara Lopez-Martin, Jacobo Albert, Mar Jimenez de la Pena, Pilar Tirado, Daniel Martin Fernandez-Mayoralas, Ana Laura Fernandez-Perrone, Beatriz Calleja-Perez, Monica Martinez-Garcia, Sara Alvarez, Alberto Fernandez-Jaen
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2020)
Article
Genetics & Heredity
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M. Alhashem, Steve Lisgo, Alberto Fernandez-Jaen, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F. Smithson, Susan Lindsay, Hayley J. Sharpe, Fowzan S. Alkuraya, Geoff Woods
Summary: Holoprosencephaly is a developmental disorder with phenotypical variabilities primarily caused by mutations in the SHH pathway genes. Variants in the PLCH1 gene may also contribute to the disorder, possibly through protein mislocalisation leading to pathogenicity.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Environmental Sciences
Irene Rincon-Perez, Alberto J. Sanchez-Carmona, Susana Arroyo-Lozano, Carlos Garcia-Rubio, Jose Antonio Hinojosa, Alberto Fernandez-Jaen, Sara Lopez-Martin, Jacobo Albert
Summary: The study found that by the end of middle childhood, most children were able to selectively interrupt their ongoing responses. Older children were more efficient in canceling initiated responses, regardless of the strategy used, and showed improvements in other forms of impulsivity.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Clinical Neurology
Mar Jimenez de la Pena, Daniel Martin Fernandez-Mayoralas, Sara Lopez-Martin, Jacobo Albert, Beatriz Calleja-Perez, Ana Laura Fernandez-Perrone, Ana Jimenez de Domingo, Pilar Tirado, Sara Alvarez, Alberto Fernandez-Jaen
Summary: This study reports four patients with KBG syndrome caused by de novo ANKRD11 aberrations. Some patients showed deficits in cognitive and socioemotional processes, and structural neuroimaging anomalies may be overlooked features of this syndrome.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Psychology, Developmental
Jacobo Albert, Irene Rincon-Perez, Alberto J. Sanchez-Carmona, Susana Arroyo-Lozano, Ricardo Olmos, Jose A. Hinojosa, Alberto Fernandez-Jaen, Sara Lopez-Martin
Summary: While the ability for selective stopping is fully mature by early preadolescence, the efficiency of stopping continues to improve throughout adolescence until young adulthood. Premature responding and post-ignore slowing are among the most relevant predictors for discriminating between developmental age groups.
DEVELOPMENTAL SCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Alyssa J. J. Paganoni, Federica Amoruso, Javier Porta Pelayo, Beatriz Calleja-Perez, Valeria Vezzoli, Paolo Duminuco, Alessia Caramello, Roberto Oleari, Alberto Fernandez-Jaen, Anna Cariboni
Summary: Intellectual disability (ID) is a neurological disorder caused by early neurodevelopmental defects. The genetic and molecular mechanisms underlying ID are complex, and alterations in genes associated with axon guidance and neural circuit formation are thought to be involved. In this study, a novel loss-of-function variant in the SEMA3E gene was identified in a patient with severe ID and cognitive regression. The variant was found to impair protein secretion and binding to neuronal cells and tissues. The expression of SEMA3E during human brain development was also revealed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Rosario Francisco-Velilla, Azman Embarc-Buh, Francisco del Cano-Ochoa, Salvador Abellan, Marcal Vilar, Sara Alvarez, Alberto Fernandez-Jaen, Sukhleen Kour, Deepa S. Rajan, Udai Bhan Pandey, Santiago Ramon-Maiques, Encarnacion Martinez-Salas
Summary: Dysfunction of RNA-binding protein Gemin5 is associated with neurological disorders. This study identified functional and structural deficiencies associated with compound heterozygosity variants within the Gemin5 gene in patients with neurodevelopmental disorders. These variants disrupt interactions with protein networks and ribosomes, affecting translation and RNA-driven pathways.
LIFE SCIENCE ALLIANCE
(2022)
Article
Psychology, Developmental
Catherine I. I. Andreu, Carlos Garcia-Rubio, Maria Melcon, Kimberly A. A. Schonert-Reichl, Jacobo Albert
Summary: Interest in mindfulness practice in education is growing, and recent research suggests that it may benefit executive functions in schools. This study investigated the effects of a mindfulness-based intervention on inhibitory control in elementary school children. Results showed improvements in executive functions and increased Nogo-P3 activity in children who received the intervention. These findings contribute to our understanding of how mindfulness practice can promote inhibitory control and positive mental health in children.
DEVELOPMENTAL SCIENCE
(2023)
Article
Genetics & Heredity
Mar Jimenez de la Pena, Irene Rincon-Perez, Sara Lopez-Martin, Jacobo Albert, Daniel Martin Fernandez-Mayoralas, Ana Laura Fernandez-Perrone, Ana Jimenez de Domingo, Pilar Tirado, Beatriz Calleja-Perez, Javier Porta, Sara Alvarez, Alberto Fernandez-Jaen
Summary: Tatton-Brown-Rahman syndrome, also known as DNMT3A-overgrowth syndrome, is an autosomal dominant syndrome characterized by overgrowth, intellectual disability, minor dysmorphic features, obesity, and behavioral problems. This study reports four patients with this syndrome caused by de novo DNMT3A pathogenic variants, providing further insight into the genetic basis and pathophysiology of TBRS. Structural neuroimaging anomalies were also identified, suggesting that corpus callosum and brain tract alterations may be unrecognized neuroimaging traits of TBRS caused by DNMT3A variants.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Psychology, Mathematical
Alberto J. Sanchez-Carmona, Irene Rincon-Perez, Sara Lopez-Martin, Jacobo Albert, Jose Antonio Hinojosa
Summary: This study investigates the impact of signal discrimination difficulty on strategy adoption in selective stopping. Results show that the difficulty of signal discrimination strongly influences strategy choice, with participants preferring a selective stopping strategy when discrimination is easy, and changing to a nonselective stopping strategy under hard discrimination conditions. Furthermore, participants can flexibly adapt their strategy according to task demands.
PSYCHONOMIC BULLETIN & REVIEW
(2021)
Article
Psychology, Experimental
L. Carretie, M. Tapia, S. Lopez-Martin, J. Albert
MOTIVATION AND EMOTION
(2019)
Article
Neurosciences
Juan Luis Parraga, Beatriz Calleja Perez, Sara Lopez-Martin, Jacobo Albert, Daniel Martin Fernandez-Mayoralas, Ana Laura Fernandez-Perrone, Ana Jimenez de Domingo, Pilar Tirado, Sonia Lopez-Arribas, Rebeca Suarez-Guinea, Alberto Fernandez-Jaen
ACTAS ESPANOLAS DE PSIQUIATRIA
(2019)
Article
Clinical Neurology
Karlijn Bouman, Jeroen L. M. van Doorn, Jan T. Groothuis, Peter J. Wijkstra, Baziel G. M. van Engelen, Corrie E. Erasmus, Jonne Doorduin, Nicol C. Voermans
Summary: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Oliviero Bruni, Maria Breda, Emanuela Malorgio, Paolo Brambilla, Flavia Ceschin, Andrea Di Pilla, Maurizio Elia, Raffaele Ferri
Summary: This study aimed to describe the use of melatonin by Italian pediatricians in healthy children with chronic insomnia. The results showed that a high percentage of pediatricians prescribed melatonin, especially in children aged 1-2 years. The most common dosage was 1 mg/day and it was usually recommended to be taken 30 minutes before bedtime. Melatonin was often combined with sleep hygiene and was found to be effective in reducing difficulties falling asleep.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Lucie Sedlackova, Katalin Sterbova, Marketa Vlckova, Pavel Seeman, Jana Zarubova, Petr Marusic, Pavel Krsek, Hana Krijtova, Alena Musilova, Petra Lassuthova
Summary: In this study, whole exome sequencing (WES) was performed to identify causal variants for developmental and epileptic encephalopathies (DEEs) in patients whose genetic diagnosis was not determined by gene panel testing. The results showed that WES can successfully identify disease-causing variants, even after inconclusive gene panel testing. Detailed clinical evaluations and phenotype-genotype correlation studies were conducted to better understand the rare subtypes of DEEs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2024)
