Article
Clinical Neurology
Thiago J. R. Rezende, Isaac M. Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A. Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F. Egan, Sophia L. Goericke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Tobias Lindig, Alberto R. M. Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Ludger Schoels, Joerg B. Schulz, Matthis Synofzik, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Ian H. Harding, Marcondes C. Franca
Summary: This study characterized cervical spinal cord structural damage in a large multisite cohort of Friedreich's ataxia (FRDA) patients. The results showed that FRDA patients had significantly reduced cross-sectional area (CSA) and increased eccentricity in the cervical spinal cord compared to control subjects. The CSA had significant correlations with disease severity, while eccentricity did not. Subgroup analyses revealed abnormal CSA and eccentricity at all disease stages, with CSA appearing to decrease progressively and eccentricity remaining stable over time.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Ana Luisa C. C. Hernandez, Thiago J. R. Rezende, Alberto R. M. Martinez, Mariana R. de Brito, Marcondes C. Franca Jr
Summary: This study utilized DTI to evaluate microstructural integrity in spinal cord white matter tracts of FRDA patients, revealing CSA reduction, differences in FA, MD, and RD parameters between patients and healthy controls at various levels. The abnormalities in white matter microstructure were found to correlate with clinical features, suggesting that spinal cord white matter microstructure could serve as a potential neuroimaging biomarker for FRDA.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Gilbert Thomas-Black, Daniel R. Altmann, Harry Crook, Nita Solanky, Ferran Prados Carrasco, Marco Battiston, Francesco Grussu, Marios C. Yiannakas, Baris Kanber, Jasleen K. Jolly, Jon Brett, Susan M. Downes, Marni Moran, Ping K. Chan, Emmanuel Adewunmi, Claudia A. M. Gandini Wheeler-Kingshott, Andrea H. Nemeth, Richard Festenstein, Fion Bremner, Paola Giunti
Summary: This study comprehensively evaluated the degeneration of the retina in FRDA patients and found heterogeneity in different retinal sectors. The thickness of the retinal nerve fiber layer was associated with frataxin levels. These findings have implications for future clinical trial design.
MOVEMENT DISORDERS
(2023)
Article
Neurosciences
Kelly A. Vaughn, My V. H. Nguyen, Juliana Ronderos, Arturo E. Hernandez
Summary: This study utilized data from the ABCD Study to examine cortical thickness differences between bilingual and monolingual children. It found that bilinguals had thinner cortex than monolinguals in various regions, and within bilinguals, greater English use was associated with thicker frontal and parietal cortical regions, while greater English vocabulary was associated with thicker frontal and temporal cortical regions. These findings replicate previous research and highlight unexplained cortical thickness differences between bilinguals and monolinguals.
Review
Health Care Sciences & Services
Pilar Rojas, Rosa de Hoz, Manuel Cadena, Elena Salobrar-Garcia, Jose A. Fernandez-Albarral, Ines Lopez-Cuenca, Lorena Elvira-Hurtado, Jose L. Urcelay-Segura, Juan J. Salazar, Jose M. Ramirez, Ana I. Ramirez
Summary: Friedreich ataxia is a progressive neurodegenerative disease with onset before 25 years of age, characterized by symptoms such as spinocerebellar ataxia, cardiomyopathy, and ocular abnormalities. The majority of cases are caused by a genetic mutation that results in a deficiency of a specific protein, leading to increased vulnerability to oxidative stress in the nervous system.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Pediatrics
Elena Vinante, Elena Colombo, Gabriella Paparella, Michela Martinuzzi, Andrea Martinuzzi
Summary: This study retrospectively observed respiratory data of 44 FRDA patients and identified a recurring pattern of restrictive respiratory dysfunction. The severity of the respiratory condition was found to correlate with the severity of the disease, pneumophonic alterations, and the severity of thoracic scoliotic curve. This suggests that respiratory function impairment is common in FRDA.
Article
Neurosciences
Natalia Zaretskaya, Erik Fink, Ana Arsenovic, Anja Ischebeck
Summary: The structural characteristics of the human brain can be measured with MRI and can be influenced by visual stimulation, leading to changes that have functional specificity and can be observed in a short period of time.
Article
Clinical Neurology
Marlene Tahedl, Rangariroyashe H. Chipika, Jasmin Lope, Stacey Li Hi Shing, Orla Hardiman, Peter Bede
Summary: This study demonstrates a strategy to track progressive cortical involvement in single ALS patients using subject-specific reference cohorts. The approach successfully corrects for demographic factors and captures relevant cortical changes associated with clinical disability. It offers a framework to interpret single T1-weighted images in ALS and track cortical propagation patterns at both individual subject and cohort levels.
JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Marvin Petersen, Felix L. Naegele, Carola Mayer, Maximilian Schell, D. Leander Rimmele, Elina Petersen, Simone Kuehn, Juergen Gallinat, Uta Hanning, Jens Fiehler, Raphael Twerenbold, Christian Gerloff, Goetz Thomalla, Bastian Cheng
Summary: The study identified a pattern of age-related cortical thickness differences, particularly with pronounced age effects in sensorimotor areas, showing strong correlations with connectivity profiles of functional and structural brain networks. Additionally, the identified difference pattern significantly covaried with cognitive and motor performance.
Article
Cardiac & Cardiovascular Systems
Lise Legrand, Jonathan W. Weinsaft, Francoise Pousset, Claire Ewenczyk, Perrine Charles, Stephane Hatem, Anna Heinzmann, Marie Biet, Alexandra Durr, Alban Redheuil
Summary: This study characterized the cardiac phenotype associated with Friedreich's ataxia and assessed the evolution of the associated cardiopathy over one year. Patients with Friedreich's ataxia exhibited left ventricular hypertrophy, concentric left ventricular remodeling, and altered left ventricular diastolic filling. Additionally, they had higher levels of high-sensitivity troponin T. The neurological severity score increased slightly over one year.
ARCHIVES OF CARDIOVASCULAR DISEASES
(2022)
Article
Endocrinology & Metabolism
Jaclyn Tamaroff, Anna DeDio, Kristin Wade, McKenzie Wells, Courtney Park, Karla Leavens, Christian Rummey, Andrea Kelly, David R. Lynch, Shana E. McCormack
Summary: This study describes the prevalence, risk factors, and management practices of FRDA-related DM. Age, severe disease, and FRDA cardiac complications were positively associated with DM risk. FRDA-related DM was generally well-controlled, though diabetic ketoacidosis did occur. Insulin is the mainstay of treatment.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2022)
Article
Cardiac & Cardiovascular Systems
Jarmon G. Lees, Marek Napierala, Alice Pebay, Mirella Dottori, Shiang Y. Lim
Summary: Friedreich's ataxia (FRDA) is a hereditary neuromuscular disorder with cardiomyopathy being the main cause of premature death. The cardiomyopathy associated with FRDA is a complex and progressive disease without effective treatment options, involving various pathological mechanisms at the cellular level such as cardiomyocyte hypertrophy, apoptosis, and fibrosis, as well as the participation of non-myocyte cells like vascular cells and inflammatory cells.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Cell Biology
Simge Kelekci, Abdullah Burak Yildiz, Kenan Sevinc, Deniz Ugurlu Cimen, Tamer Onder
Summary: This article discusses the current status and challenges of research on Friedreich's ataxia, with a focus on the application of animal models, patient-derived materials, and induced pluripotent stem cell models. The article explores the investigation of disease mechanisms and potential therapeutic agents for Friedreich's ataxia using these models.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Piergiorgio La Rosa, Sara Petrillo, Riccardo Turchi, Francesco Berardinelli, Tommaso Schirinzi, Gessica Vasco, Daniele Lettieri-Barbato, Maria Teresa Fiorenza, Enrico S. Bertini, Katia Aquilano, Fiorella Piemonte
Summary: Ferroptosis is a form of iron-dependent cell death that may be involved in Friedreich's Ataxia. Nrf2 signaling plays a crucial role in ferroptosis, suggesting it as a potential target to combat neurodegenerative diseases.
Article
Clinical Neurology
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Summary: Scoliosis is a common comorbidity in patients with Friedreich's ataxia, with early or typical onset patients having a higher risk of developing intermediate to severe scoliosis. Surgical intervention is often needed, especially in the most severe cases, with younger patients delaying surgery until the end of their growth period, leading to further progression of the condition. Age of onset before or after 15 years is a critical factor in determining the severity and progression of scoliosis in FRDA patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Clinical Neurology
Thiago J. R. Rezende, Isaac M. Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A. Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F. Egan, Sophia L. Goericke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Tobias Lindig, Alberto R. M. Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Ludger Schoels, Joerg B. Schulz, Matthis Synofzik, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, Ian H. Harding, Marcondes C. Franca
Summary: This study characterized cervical spinal cord structural damage in a large multisite cohort of Friedreich's ataxia (FRDA) patients. The results showed that FRDA patients had significantly reduced cross-sectional area (CSA) and increased eccentricity in the cervical spinal cord compared to control subjects. The CSA had significant correlations with disease severity, while eccentricity did not. Subgroup analyses revealed abnormal CSA and eccentricity at all disease stages, with CSA appearing to decrease progressively and eccentricity remaining stable over time.
MOVEMENT DISORDERS
(2023)
Article
Neurosciences
Liara Rizzi, Thamires Naela Cardoso Magalhaes, Natalie Lecce, Adriel dos Santos Moraes, Raphael Fernandes Casseb, Camila Vieira Ligo Teixeira, Brunno Machado de Campos, Thiago Junqueira Ribeiro de Rezende, Leda Leme Talib, Orestes Vicente Forlenza, Fernando Cendes, Marcio Luiz Figueredo Balthazar
Summary: This study aimed to evaluate the ability of cerebrospinal fluid (CSF) AD biomarkers, hippocampal volumes, and Default Mode Network functional connectivity to predict clinical response to ChEIs treatment in mild AD. The functional connectivity of the right hippocampus showed a direct relationship with the clinical response to cholinesterase inhibitors (ChEIs) treatment in patients with mild Alzheimer's disease. Transposing our findings to clinical settings could allow physicians to prescribe ChEIs for patients for whom treatment would be most beneficial.
BRAIN CONNECTIVITY
(2023)
Review
Clinical Neurology
Lennart Walger, Sophie Adler, Konrad Wagstyl, Leonie Henschel, Bastian David, Valeri Borger, Elke Hattingen, Hartmut Vatter, Christian E. Elger, Torsten Baldeweg, Felix Rosenow, Horst Urbach, Albert Becker, Alexander Radbruch, Rainer Surges, Martin Reuter, Fernando Cendes, Zhong Irene Wang, Hans-Juergen Huppertz, Theodor Rueber
Summary: Focal cortical dysplasias (FCDs) are common pathologies causing treatment-resistant focal epilepsy. Resective neurosurgery can be successful, but the visual assessment of magnetic resonance imaging is not always accurate in locating FCDs. Computational approaches using artificial intelligence show promise in automatic FCD detection. However, challenges remain in organizing imaging data, evaluating algorithmic output, and making research accessible and reproducible.
Article
Behavioral Sciences
Thamires Naela Cardoso Magalhaes, Raphael Fernandes Casseb, Christian Luiz Baptista Gerbelli, Luciana Ramalho Pimentel-Siva, Mateus Henrique Nogueira, Camila Vieira Ligo Teixeira, Ana Flavia Mac Knight Carletti, Thiago Junqueira Ribeiro de Rezende, Helena Passarelli Giroud Joaquim, Leda Leme Talib, Orestes Vicente Forlenza, Fernando Cendes, Marcio Luiz Figueredo Balthazar
Summary: The causes of neurodegenerative processes in Alzheimer's disease are not fully understood. Recent studies have shown that damage in white matter may be more severe and widespread than cortical atrophy in the brain, appearing even before gray matter damage. Amyloid-beta and tau proteins in AD can directly affect white matter and spread across brain networks. This study aimed to evaluate whole-brain white matter integrity using diffusion tensor imaging in mild AD and amnestic mild cognitive impairment (aMCI) due to AD. Widespread white matter alterations were found, with correlations between tau proteins and tracts linked to the mesial temporal lobe. However, hippocampal volume better explained the variation in diffusion tensor imaging measures compared to CSF proteins.
BRAIN AND BEHAVIOR
(2023)
Article
Clinical Neurology
Hyo M. Lee, Seok-Jun Hong, Ravnoor Gill, Benoit Caldairou, Irene Wang, Jian-guo Zhang, Francesco Deleo, Dewi Schrader, Fabrice Bartolomei, Maxime Guye, Kyoo Ho Cho, Carmen Barba, Sanjay Sisodiya, Graeme Jackson, R. Edward Hogan, Lily Wong-Kisiel, Gregory D. Cascino, Andreas Schulze-Bonhage, Iscia Lopes-Cendes, Fernando Cendes, Renzo Guerrini, Boris Bernhardt, Neda Bernasconi, Andrea Bernasconi
Summary: This study explores the associations between Focal cortical dysplasia (FCD) and cytoarchitecture, gene expression, and axes of cortical organization. The findings suggest that the vulnerability of the frontal lobe to FCD may be due to early termination of prenatal neurogenesis and aberrant postnatal synaptogenesis.
Article
Clinical Neurology
Fabio A. Nascimento, Daniel Friedman, Jurriaan M. Peters, Meriem K. Bensalem-Owen, Fernando Cendes, Stefan Rampp, Elaine Wirrell, Ingmar Bluemcke, William Tatum, Sandor Beniczky
Summary: Correct diagnosis and classification of seizures and epilepsies are crucial to provide optimal care for epilepsy patients. Focal seizures are divided into focal aware, focal impaired awareness, and focal to bilateral tonic-clonic seizures. Focal epilepsies are common in both children and adults, with different causes and subgroups. Neuroimaging, neurophysiology, and neuropathology are important in the diagnostic evaluation of focal epilepsies.
EPILEPTIC DISORDERS
(2023)
Article
Clinical Neurology
Ildefonso Rodriguez-Leyva, Karla Cantu-Flores, Arturo Dominguez-Frausto, Anna Elisabetta Vaudano, John Archer, Boris Bernhardt, Lorenzo Caciagli, Fernando Cendes, Yotin Chinvarun, Paolo Federico, William D. Gaillard, Eliane Kobayashi, Godwin Ogbole, Stefan Rampp, Irene Wang, Shuang Wang, Luis Concha
Summary: The ILAE Neuroimaging Task Force published educational case reports on neuroimaging in epilepsy. Neurocysticercosis is highly endemic in resource-limited countries and is increasingly seen in non-endemic regions due to migration. This article presents two cases with different clinical features to illustrate the varying severity of symptoms caused by this parasitic infestation, as well as examples of imaging characteristics that emphasize the central role of neuroimaging in diagnosing neurocysticercosis.
EPILEPTIC DISORDERS
(2023)
Article
Clinical Neurology
Guilherme Rossi Assis-Mendonca, Maria Carolina Pedro Athie, Joao Vitor Gerdulli Tamanini, Arethusa de Souza, Gabriel Gerardini Zanetti, Patricia Aline Oliveira Ribeiro de Aguiar Araujo, Enrico Ghizoni, Helder Tedeschi, Marina Koutsodontis Machado Alvim, Vanessa Simao de Almeida, Welliton de Souza, Roland Coras, Clarissa Lin Yasuda, Ingmar Bluemcke, Andre Schwambach Vieira, Fernando Cendes, Iscia Lopes-Cendes, Fabio Rogerio
Summary: In this study, we analyzed the genetic material of FCD II patients and found that the cholesterol synthesis pathway was activated in the gray matter of the brain, which may be a neuroprotective response to seizures. Additionally, we identified upregulation of MTRNR2L12 and GPNMB expression, which may serve as potential neuropathological biomarkers for a cortex chronically exposed to seizures and balloon cells, respectively.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Clarissa Lin Yasuda, Luciana Ramalho Pimentel-Silva, Guilherme Coco Beltramini, Min Liu, Brunno Machado de Campos, Ana Carolina Coan, Christian Beaulieu, Fernando Cendes, Donald William Gross
Summary: Typical aging is associated with cognitive decline and changes in brain structure. In mesial temporal lobe epilepsy patients, cognitive decline starts early in life and runs parallel to controls, suggesting initial insult rather than accelerated decline due to seizures. Whether TLE patients show similar age-related gray and white matter changes as healthy controls is uncertain.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Neurosciences
Jose Thiago de Souza de Castro, Camilo Lot fi Saab, Mariam Patricia Auada Souto, Juliane Giselle Ortolam, Carlos Eduardo Steiner, Thiago Junqueira Ribeiro de Rezende, Fabiano Reis
Summary: In this study, volumetric analysis of the brain was performed on two siblings with SLS, revealing volume reduction in deep grey matter nuclei, cerebellar grey matter, and brainstem. This suggests that SLS is not solely a leukoencephalopathy, but also involves dysfunction in thalamic motor pathways.
ARQUIVOS DE NEURO-PSIQUIATRIA
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Mauricio Martins Baldissin, Edna Marina de Souza, Nancy Watanabe, Elba C. S. C. Etchebehere, Fernando Cendes, Barbara Juarez Amorim
Summary: The role of brain F-18-FDG-PET and F-18-FDG-PET/CT in the diagnosis and follow-up of autoimmune encephalitis (AE) patients is discussed in this review. The review highlights the main findings and new perspectives on the use of these methods in studying the disease. The sensitivity of FDG-PET and FDG-PET/CT in detecting hyper and hypometabolism in AE patients is shown in the literature. It is suggested that specific metabolic alterations detected in imaging may be suggestive of the different antibodies causing AE. However, more prospective studies are needed for these imaging techniques to become a standard diagnostic method for AE.
CLINICAL AND TRANSLATIONAL IMAGING
(2023)
Article
Neurosciences
Alexandra Prufer de Queiroz Campos Araujo, Jonas Alex Morales Saute, Clarisse Pereira Dias Drumond Fortes, Marcondes Cavalcante Franca Jr, Jaqueline Almeida Pereira, Marco Antonio Veloso de Albuquerque, Alzira Alves de Siqueira Carvalho, Eduardo Boiteux Uchoa Cavalcanti, Anna Paula Paranhos Miranda Covaleski, Simone Chaves Fagondes, Juliana Gurgel-Giannetti, Marcus Vinicius Magno Goncalves, Alberto Rolim Muro Martinez, Antonio Rodrigues Coimbra Neto, Flavio Reis Neves, Anamarli Nucci, Ana Paula Cassetta dos Santos Nucera, Andre Luis Santos Pessoa, Marcos Ferreira Rebel, Flavia Nardes dos Santos, Rosana Herminia Scola, Claudia Ferreira da Rosa Sobreira
Summary: In recent decades, there have been significant improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD). International guidelines have been published and reviewed, and Brazilian experts have developed evidence-based recommendations for care. Implementing best practice management and new treatments has changed the natural history of DMD, improving life expectancy. In this document, the previous care recommendations for Brazilian patients with DMD are reviewed and updated.
ARQUIVOS DE NEURO-PSIQUIATRIA
(2023)