Article
Medicine, Research & Experimental
Abraham J. Paredes-Fuentes, Sergi Cesar, Raquel Montero, Cristina Latre, Jordi Genoves, Loreto Martorell, Daniel Cuadras, Helena Colom, Merce Pineda, Maria del Mar O'Callaghan, Georgia Sarquella-Brugada, Alejandra Darling, Rafael Artuch
Summary: This study aimed to report plasma idebenone values in a cohort of Friedreich's ataxia (FRDA) patients during long-term follow-up. The results showed marked variations in idebenone levels among patients, with no consistent positive effect observed after analysis of paired data. Additionally, a correlation was found between some cardiological measures and the duration of idebenone therapy at high doses.
BIOMEDICINE & PHARMACOTHERAPY
(2021)
Review
Pharmacology & Pharmacy
Wenyao Yang, Bruce Thompson, Faith A. A. Kwa
Summary: Friedreich's ataxia is caused by an intronic GAA trinucleotide expansion in the gene, leading to frataxin protein deficiency. Current management focuses on symptomatic relief as there are no treatments to prevent disease progression, highlighting the importance of targeting molecular pathways to alter the course of the condition.
DRUG DISCOVERY TODAY
(2022)
Review
Biochemistry & Molecular Biology
Nuri Gueven, Pranathi Ravishankar, Rajaraman Eri, Emma Rybalka
Summary: Idebenone is widely described as an antioxidant drug, but there is a significant discrepancy between its pharmacokinetics and achievable tissue levels in target tissues, casting doubt on our current understanding. A new framework has been proposed based on recent discoveries to explain its mode of action, providing a rational approach for testing its effects in novel indications.
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
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
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)
Review
Biochemistry & Molecular Biology
Gabriel Ocana-Santero, Javier Diaz-Nido, Saul Herranz-Martin
Summary: Friedreich's ataxia is a genetic disease with no effective treatment currently available. Gene therapy appears to be a promising approach, although challenges such as immunotoxicity and phenotoxicity need to be addressed. Further research is needed to overcome these obstacles and evaluate the potential of gene therapy in treating the disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
L. Legrand, C. Heuze, A. Diallo, M. L. Monin, C. Ewenczyk, E. Vicaut, G. Montalescot, R. Isnard, A. Durr, F. Pousset
Summary: Friedreich's ataxia (FA) is a rare mitochondria! disease with cardiac disease as the major cause of death. This study found that, in FA patients, LVEF was a better independent predictor of mortality compared to LS.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
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
Biochemistry & Molecular Biology
Riccardo Luffarelli, Luca Panarello, Andrea Quatrana, Francesca Tiano, Silvia Fortuni, Alessandra Rufini, Florence Malisan, Roberto Testi, Ivano Condo
Summary: Friedreich's ataxia (FRDA) is a rare genetic disease characterized by progressive degeneration of multiple systems. The pathophysiology of FRDA involves disruptions in iron metabolism, mitochondrial homeostasis, and oxidative stress, exacerbated by impaired antioxidant defenses. Interferon gamma (IFN-?) has shown potential as a therapy for FRDA by increasing frataxin levels and improving functional deficits. IFN-? induces the expression of antioxidant proteins Nrf2 and MnSOD through separate pathways, enhancing antioxidant responses and reducing cell death in FRDA fibroblasts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
D. N. Manners, G. Rizzo, C. La Morgia, C. Tonon, C. Testa, P. Barboni, E. Malucelli, M. L. Valentino, L. Caporali, D. Strobbe, V. Carelli, R. Lodi
AMERICAN JOURNAL OF NEURORADIOLOGY
(2015)
Article
Clinical Neurology
Valerio Carelli, Olimpia Musumeci, Leonardo Caporali, Claudia Zanna, Chiara La Morgia, Valentina Del Dotto, Anna Maria Porcelli, Michela Rugolo, Maria Lucia Valentino, Luisa Iommarini, Alessandra Maresca, Piero Barboni, Michele Carbonelli, Costantino Trombetta, Enza Maria Valente, Simone Patergnani, Carlotta Giorgi, Paolo Pinton, Giovanni Rizzo, Caterina Tonon, Raffaele Lodi, Patrizia Avoni, Rocco Liguori, Agostino Baruzzi, Antonio Toscano, Massimo Zeviani
ANNALS OF NEUROLOGY
(2015)
Article
Neurosciences
Stefano Zanigni, Rossana Terlizzi, Caterina Tonon, Claudia Testa, David Neil Manners, Sabina Capellari, Roberto Gallassi, Roberto Poda, Laura Ludovica Gramegna, Giovanna Calandra-Buonaura, Luisa Sambati, Pietro Cortelli, Raffaele Lodi
BRAIN RESEARCH BULLETIN
(2015)
Article
Medicine, Research & Experimental
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri
EMBO MOLECULAR MEDICINE
(2015)
Article
Clinical Neurology
Stefano Zanigni, Claudia Testa, Giovanna Calandra-Buonaura, Luisa Sambati, Maria Guarino, Anna Gabellini, Stefania Evangelisti, Pietro Cortelli, Raffaele Lodi, Caterina Tonon
PARKINSONISM & RELATED DISORDERS
(2015)
Letter
Clinical Neurology
Valerio Carelli, Mario Sabatelli, Rosalba Carrozzo, Teresa Rizza, Simone Schimpf, Bernd Wissinger, Claudia Zanna, Michela Rugolo, Chiara La Morgia, Leonardo Caporali, Michele Carbonelli, Piero Barboni, Caterina Tonon, Raffaele Lodi, Enrico Bertini
Article
Clinical Neurology
Claudia Testa, Giovanna Calandra-Buonaura, Stefania Evangelisti, Giulia Giannini, Federica Provini, Stefano Ratti, Annagrazia Cecere, Lia Talozzi, David Neil Manners, Raffaele Lodi, Caterina Tonon, Pietro Cortelli
PARKINSONISM & RELATED DISORDERS
(2019)
Review
Immunology
Vincenzo Di Nunno, Giacomo Nuvola, Mirta Mosca, Ilaria Maggio, Lidia Gatto, Alicia Tosoni, Raffaele Lodi, Enrico Franceschi, Alba Ariela Brandes
Summary: Immune checkpoint inhibitors show potential in the treatment of brain metastases, particularly for melanoma. The clinical role of immune checkpoint inhibitors for brain metastases from other solid malignancies remains uncertain at present.
Article
Biophysics
Marco Barbieri, Philip K. Lee, Leonardo Brizi, Enrico Giampieri, Francesco Solera, Gastone Castellani, Brian A. Hargreaves, Claudia Testa, Raffaele Lodi, Daniel Remondini
Summary: Magnetic resonance fingerprinting (MRF) is a fast quantitative MRI method. This study proposes a deep learning approach using a fully connected network (FCN) for MRF and compares it with the traditional dictionary-based approach. The results show that the FCN approach outperforms the dictionary-based approach in terms of scalability capabilities. The study also explores optimal training procedures to improve accuracy and robustness to noise and undersampling artifacts.
NMR IN BIOMEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Viscardo P. Fabbri, Mattia Riefolo, Tiziana Lazzarotto, Liliana Gabrielli, Giovanna Cenacchi, Carmine Gallo, Raffaele Aspide, Guido Frascaroli, Rocco Liguori, Raffaele Lodi, Caterina Tonon, Antonietta D'Errico, Maria Pia Foschini
Summary: The study described 33 cases of brain autopsies performed during two waves of the COVID-19 pandemic, comparing SARS-CoV-2 infection status and pathological findings.
Review
Medicine, General & Internal
Christian di Noia, James T. Grist, Frank Riemer, Maria Lyasheva, Miriana Fabozzi, Mauro Castelli, Raffaele Lodi, Caterina Tonon, Leonardo Rundo, Fulvio Zaccagna
Summary: Given the increasing clinical needs, artificial intelligence (AI) techniques have been widely used to predict survival in patients with brain tumors. This review focuses on the current applications of AI, particularly in magnetic resonance imaging (MRI), for survival assessment. The study identifies machine learning, deep learning, and radiomics-based methods as effective approaches for classifying patients and quantifying survival intervals. While classification tasks achieve high accuracy, quantification remains challenging but shows promising results.
Proceedings Paper
Computer Science, Artificial Intelligence
Rita Morisi, Giorgio Gnecco, Nico Lanconelli, Stefano Zanigni, David Neil Manners, Claudia Testa, Stefania Evangelisti, Laura Ludovica Gramegna, Claudio Bianchini, Pietro Cortelli, Caterina Tonon, Raffaele Lodi
PATTERN RECOGNITION AND IMAGE ANALYSIS (IBPRIA 2015)
(2015)
