Article
Clinical Neurology
Avyarthana Dey, Collin C. Luk, Abdullah Ishaque, Daniel Ta, Ojas Srivastava, Dennell Krebs, Peter Seres, Chris Hanstock, Christian Beaulieu, Lawrence Korngut, Richard Frayne, Lorne Zinman, Simon Graham, Angela Genge, Hannah Briemberg, Sanjay Kalra
Summary: This study aimed to identify the structural and neurochemical properties that contribute to functional connectivity impairments in the primary motor cortex (PMC) in amyotrophic lateral sclerosis (ALS), and to understand the clinical implications of these findings. The analysis of multimodal data revealed reduced functional connectivity between the PMC and other regions in the brain, as well as alterations in neurochemical markers and diffusion metrics. Furthermore, there were correlations between neurochemical markers, diffusion metrics, and upper motor neuron function. These findings suggest that in vivo neurochemistry may serve as an effective imaging marker for assessing functional connectivity impairments in ALS.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Biochemistry & Molecular Biology
Claudia Malacarne, Mariarita Galbiati, Eleonora Giagnorio, Paola Cavalcante, Franco Salerno, Francesca Andreetta, Cinza Cagnoli, Michela Taiana, Monica Nizzardo, Stefania Corti, Viviana Pensato, Anna Venerando, Cinzia Gellera, Silvia Fenu, Davide Pareyson, Riccardo Masson, Lorenzo Maggi, Eleonora Dalla Bella, Giuseppe Lauria, Renato Mantegazza, Pia Bernasconi, Angelo Poletti, Silvia Bonanno, Stefania Marcuzzo
Summary: Motor neuron diseases (MNDs) are neurodegenerative disorders characterized by upper and/or lower MN loss. Recent research has highlighted the potential role of myomiRs as promising biomarkers in MNDs, with dysregulation of these molecules observed in both mouse models and human patients. Further investigation is needed to explore the therapeutic potential of myomiRs in MND treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Mariangeles Kovacs, Catalina Alamon, Cecilia Maciel, Valentina Varela, Sofia Ibarburu, Lucas Tarrago, Peter H. King, Ying Si, Yuri Kwon, Olivier Hermine, Luis Barbeito, Emiliano Trias
Summary: This study identified the presence of c-Kit+ MCs in the CNS of ALS patients and suggested a potential pathological mechanism triggered by these cells through an SCF/c-Kit-dependent mechanism. Pharmacological inhibition of c-Kit may reduce the number of MCs in ALS, providing a potential therapeutic target for the disease.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2021)
Article
Clinical Neurology
P. V. S. Souza, W. B. V. R. Pinto, A. Ricarte, B. M. L. Badia, D. D. Seneor, D. T. Teixeira, L. Caetano, E. A. Goncalves, M. A. T. Chieia, I. B. Farias, E. Bertini, A. S. B. Oliveira
Summary: This study identified a cohort of 20 patients with SMA type 4 in a Brazilian cohort of 227 SMA patients. The most common clinical symptom was limb-girdle muscle weakness, with absent tendon reflexes in 90% of patients and fasciculations in 45% of patients. The majority of patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 60% of them showing four copies of the SMN2 gene.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Kathrin Muller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C. Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim, Peter Munch Andersen
Summary: De novo mutations in SOD1 have been identified as a cause of sporadic ALS, potentially impacting both isolated cases and smaller familial groups. While the exact origin of these mutations remains uncertain, the findings suggest the importance of genetic counseling and screening for all ALS patients to potentially benefit from personalized therapy.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Genetics & Heredity
Xinmei Wen, Wenjia Zhu, Nan L. Xia, Qianwen Li, Li Di, Shu Zhang, Hai Chen, Yan Lu, Min Wang, Min Xu, Suobin Wang, Xin-Ming Shen, Jie Lu, Yuwei Da
Summary: Amyotrophic lateral sclerosis (ALS) is a common motor neuron disease with diverse clinical presentations and genetic causes. Different missense mutations in the SOD1 gene have been identified to cause familial ALS, and a novel mutation may lead to fast-deteriorating pure lower motor neuron symptoms. Modeling of all R116 substitutions in the SOD1 protein structure showed a shared mechanism of destroyed hydrogen bonds, potentially resulting in neurotoxicity.
FRONTIERS IN GENETICS
(2021)
Article
Clinical Neurology
Adriaan D. de Jongh, Nathalie Braun, Markus Weber, Michael A. van Es, Pegah Masrori, Jan H. Veldink, Philip van Damme, Leonard H. van den Berg, Ruben P. A. van Eijk
Summary: This study aimed to characterize disease progression in amyotrophic lateral sclerosis (ALS) according to the Gold Coast criteria (GCC). The results showed that the GCC broadened the definition of ALS, allowing more patients to participate in trials, while minimally impacting population heterogeneity. However, there were variations in survival time and progression rates between different diagnostic categories, suggesting that selecting specific categories for trials may not result in a more homogeneous study population.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Genetics & Heredity
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri, Hamidreza Moazzeni, Hanieh Taheri, Elahe Elahi
Summary: This study identified a novel causative gene, RNF13, for recessively inherited ALS and found that its mutation affects protein homeostasis, contributing to the pathogenesis of neurodegeneration.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Jan Lejman, Kinga Panuciak, Emilia Nowicka, Angelika Mastalerczyk, Katarzyna Wojciechowska, Monika Lejman
Summary: Gene therapy is the administration of genetic material to modify gene expression or alter cell properties for therapeutic purposes. Recent advances in this field have led to breakthroughs in treating diseases, including motor neuron diseases (MNDs). MNDs are neurodegenerative disorders, and gene therapy shows promise in improving the treatment of these diseases such as SMA and ALS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Sicong Tu, Mengjie Huang, Jashelle Caga, Colin J. Mahoney, Matthew C. Kiernan
Summary: The study investigated the association between pseudobulbar affect and pathological laughter and crying episodes among ALS patients. It found that the presence of pseudobulbar affect was significantly higher in ALS patients with bulbar onset. Additionally, the frequency of pathological laughter episodes was differentially associated with cognitive performance and brainstem integrity.
FRONTIERS IN NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Elena Abati, Arianna Manini, Giacomo Pietro Comi, Stefania Corti
Summary: Myostatin is a negative regulator of skeletal muscle growth secreted by skeletal myocytes. Inhibition of myostatin has shown potential in enhancing muscle growth and reducing muscle atrophy, making it a promising target for the treatment of motor neuron diseases. This review aims to describe the role of myostatin in these diseases, summarize preclinical and clinical studies of myostatin inhibitors, and discuss the promises and pitfalls of using these inhibitors in human settings, to aid the development of future clinical trials.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Clinical Neurology
Giulia Gianferrari, Ilaria Martinelli, Cecilia Simonini, Elisabetta Zucchi, Nicola Fini, Serena Carra, Cristina Moglia, Jessica Mandrioli
Summary: With the increasing importance of personalized approaches based on genetics, it becomes crucial to report new mutations in amyotrophic lateral sclerosis (ALS) genes to better understand their pathogenicity and potential patient responses to specific therapies. SOD1 mutations are the second most common genetic cause of ALS in European populations. In this study, two seemingly unrelated ALS patients from Italy were found to carry the same unfamiliar SOD1 mutation, c.400_402 deletion (p.Glu134del). Both patients exhibited spinal onset, progressive muscular weakness with respiratory involvement, and preserved bulbar function. The possible pathogenic role of this uncommon SOD1 mutation is also discussed.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Edoardo Nicolo Aiello, Debora Pain, Alice Radici, Kalliopi Marinou Aktipi, Riccardo Sideri, Ildebrando Appollonio, Gabriele Mora
Summary: This study found cognitive deficits in ALS patients, with classical and predominant-upper motor neuron phenotypes performing the worst. Poorer functional scores correlated with poorer cognitive scores. These findings are important for understanding the cognitive impact of ALS.
NEUROLOGICAL SCIENCES
(2022)
Article
Neurosciences
Seoan Huh, Charles J. Heckman, Marin Manuel
Summary: The excitability of spinal motoneurons in ALS patients is initially maintained by pushing some cells far above the normal range of conductances, but as the disease progresses, conductances shrink below normal values in surviving cells. This shrinkage may promote survival and indicate that large conductances contribute to degeneration.
Article
Biochemistry & Molecular Biology
Oliver J. Ziff, Benjamin E. Clarke, Doaa M. Taha, Hamish Crerar, Nicholas M. Luscombe, Rickie Patani
Summary: This study reveals that astrocytes in amyotrophic lateral sclerosis (ALS) exhibit inflammatory reactive features and suppress neuronal support mechanisms. These findings offer potential therapeutic targets for ALS.
Article
Neurosciences
Thais T. Hayata, Felipe P. G. Bergo, Thiago J. Rezende, Alfredo Damasceno, Benito P. Damasceno, Fernando Cendes, Florindo Stella, Marcio L. F. Balthazar
ARQUIVOS DE NEURO-PSIQUIATRIA
(2015)
Article
Neurosciences
Ana Carolina Coan, Brunno M. Campos, Felipe P. G. Bergo, Bruno Y. Kubota, Clarissa L. Yasuda, Marcia E. Morita, Carlos A. M. Guerreiro, Fernando Cendes
ARQUIVOS DE NEURO-PSIQUIATRIA
(2015)
Article
Clinical Neurology
Clarissa Lin Yasuda, Zhang Chen, Guilherme Coco Beltramini, Ana Carolina Coan, Marcia Elisabete Morita, Bruno Kubota, Felipe Bergo, Christian Beaulieu, Fernando Cendes, Donald William Gross
Article
Clinical Neurology
Christopher D. Whelan, Andre Altmann, Juan A. Botia, Neda Jahanshad, Derrek P. Hibar, Julie Absil, Saud Alhusaini, Marina K. M. Alvim, Pia Auvinen, Emanuele Bartolini, Felipe P. G. Bergo, Tauana Bernardes, Karen Blackmon, Barbara Braga, Maria Eugenia Caligiuri, Anna Calvo, Sarah J. Carr, Jian Chen, Shuai Chen, Andrea Cherubini, Philippe David, Martin Domin, Sonya Foley, Wendy Franca, Gerrit Haaker, Dmitry Isaev, Simon S. Keller, Raviteja Kotikalapudi, Magdalena A. Kowalczyk, Ruben Kuzniecky, Soenke Langner, Matteo Lenge, Kelly M. Leyden, Min Liu, Richard Q. Loi, Pascal Martin, Mario Mascalchi, Marcia E. Morita, Jose C. Pariente, Raul Rodriguez-Cruces, Christian Rummel, Taavi Saavalainen, Mira K. Semmelroch, Mariasavina Severino, Rhys H. Thomas, Manuela Tondelli, Domenico Tortora, Anna Elisabetta Vaudano, Lucy Vivash, Felix von Podewils, Jan Wagner, Bernd Weber, Yi Yao, Clarissa L. Yasuda, Guohao Zhang, Nuria Bargallo, Benjamin Bender, Neda Bernasconi, Andrea Bernasconi, Boris C. Bernhardt, Ingmar Bluemcke, Chad Carlson, Gianpiero L. Cavalleri, Fernando Cendes, Luis Concha, Norman Delanty, Chantal Depondt, Orrin Devinsky, Colin P. Doherty, Niels K. Focke, Antonio Gambardella, Renzo Guerrini, Khalid Hamandi, Graeme D. Jackson, Reetta Kalviainen, Peter Kochunov, Patrick Kwan, Angelo Labate, Carrie R. McDonald, Stefano Meletti, Terence J. O'Brien, Sebastien Ourselin, Mark P. Richardson, Pasquale Striano, Thomas Thesen, Roland Wiest, Junsong Zhang, Annamaria Vezzani, Mina Ryten, Paul M. Thompson, Sanjay M. Sisodiya
Article
Clinical Neurology
A. C. Coan, B. Kubota, F. P. G. Bergo, B. M. Campos, F. Cendes
AMERICAN JOURNAL OF NEURORADIOLOGY
(2014)
Article
Neurosciences
Camila N. Fahl, Lucas Melo T. Branco, Felipe P. G. Bergo, Anelyssa D'Abreu, Iscia Lopes-Cendes, Marcondes C. Franca
Article
Clinical Neurology
Denise Pacagnella, Tatila M. Lopes, Marcia E. Morita, Clarissa L. Yasuda, Fabio A. M. Cappabianco, Felipe Bergo, Marcio L. F. Balthazar, Ana C. Coan, Fernando Cendes
Article
Behavioral Sciences
Luciana Akemi Yasuda Suemitsu, Clarissa Lin Yasuda, Marcia Elisabete Morita, Guilherme Coco Beltramini, Ana Carolina Coan, Felipe Bergo, Iscia Lopes-Cendes, Fernando Cendes
EPILEPSY & BEHAVIOR
(2014)
Article
Clinical Neurology
C. Bonilha da Silva, F. P. G. Bergo, A. D'Abreu, F. Cendes, I. Lopes-Cendes, M. C. Franca
EUROPEAN JOURNAL OF NEUROLOGY
(2014)
Article
Clinical Neurology
Felipe von Glehn, Sven Jarius, Rodrigo Pessoa Cavalcanti Lira, Maria Carolina Alves Ferreira, Fadua H. Ribeiro von Glehn, Stella Maris Costa e Castro, Guilherme Coco Beltramini, Felipe P. G. Bergo, Alessandro S. Farias, Carlos Otavio Brandao, Brigitte Wildemann, Benito P. Damasceno, Fernando Cendes, Leonilda M. B. Santos, Clarissa Lin Yasuda
MULTIPLE SCLEROSIS JOURNAL
(2014)
Article
Multidisciplinary Sciences
Ana C. Coan, Brunno M. Campos, Clarissa L. Yasuda, Bruno Y. Kubota, Felipe P. G. Bergo, Carlos A. M. Guerreiro, Fernando Cendes
Article
Clinical Neurology
Andre Altmann, Mina Ryten, Martina Di Nunzio, Teresa Ravizza, Daniele Tolomeo, Regina H. Reynolds, Alyma Somani, Marco Bacigaluppi, Valentina Iori, Edoardo Micotti, Rossella Di Sapia, Milica Cerovic, Eleonora Palma, Gabriele Ruffolo, Juan A. Botia, Julie Absil, Saud Alhusaini, Marina K. M. Alvim, Pia Auvinen, Nuria Bargallo, Emanuele Bartolini, Benjamin Bender, Felipe P. G. Bergo, Tauana Bernardes, Andrea Bernasconi, Neda Bernasconi, Boris C. Bernhardt, Karen Blackmon, Barbara Braga, Maria Eugenia Caligiuri, Anna Calvo, Chad Carlson, Sarah J. A. Carr, Gianpiero L. Cavalleri, Fernando Cendes, Jian Chen, Shuai Chen, Andrea Cherubini, Luis Concha, Philippe David, Norman Delanty, Chantal Depondt, Orrin Devinsky, Colin P. Doherty, Martin Domin, Niels K. Focke, Sonya Foley, Wendy Franca, Antonio Gambardella, Renzo Guerrini, Khalid Hamandi, Derrek P. Hibar, Dmitry Isaev, Graeme D. Jackson, Neda Jahanshad, Reetta Kalviainen, Simon S. Keller, Peter Kochunov, Raviteja Kotikalapudi, Magdalena A. Kowalczyk, Ruben Kuzniecky, Patrick Kwan, Angelo Labate, Soenke Langner, Matteo Lenge, Min Liu, Pascal Martin, Mario Mascalchi, Stefano Meletti, Marcia E. Morita-Sherman, Terence J. O'Brien, Jose C. Pariente, Mark P. Richardson, Raul Rodriguez-Cruces, Christian Rummel, Taavi Saavalainen, Mira K. Semmelroch, Mariasavina Severino, Pasquale Striano, Thomas Thesen, Rhys H. Thomas, Manuela Tondelli, Domenico Tortora, Anna Elisabetta Vaudano, Lucy Vivash, Felix Podewils, Jan Wagner, Bernd Weber, Roland Wiest, Clarissa L. Yasuda, Guohao Zhang, Junsong Zhang, Costin Leu, Andreja Avbersek, Maria Thom, Christopher D. Whelan, Paul Thompson, Carrie R. McDonald, Annamaria Vezzani, Sanjay M. Sisodiya
Summary: The study identified elevated fractions of microglia and endothelial cells in regions of reduced cortical thickness, with differentially expressed genes showing enrichment for microglial markers, particularly activated microglial states. Findings suggest that activated microglia may play a role in cortical thinning in epilepsy.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)
Meeting Abstract
Clinical Neurology
Boris Gutman, Joanna Bright, Christian Rummel, Cristiane S. Rocha, Ines Debove, Clarissa Yasuda, Rachel Paes Guimaraes, Felipe Bergo, Anelyssa D'Abreu, Kathleen Poston, Roland Wiest, Fernando Cendes, Paul M. Thompson, Ysbrand van der Werf
Article
Engineering, Biomedical
Guilherme C. S. Ruppert, Giovani Chiachia, Felipe P. G. Bergo, Fernanda O. Favretto, Clarissa L. Yasuda, Anderson Rocha, Alexandre X. Falcao
COMPUTER METHODS IN BIOMECHANICS AND BIOMEDICAL ENGINEERING-IMAGING AND VISUALIZATION
(2017)