Review
Biochemistry & Molecular Biology
Marina Stavrou, Irene Sargiannidou, Elena Georgiou, Alexia Kagiava, Kleopas A. Kleopa
Summary: CMT disease is a genetically heterogeneous disorder affecting the peripheral nerves, with diverse molecular genetic mechanisms discovered over the past three decades. There are currently various treatment approaches in preclinical testing and clinical trials, including disease-specific targeted therapies and treatments targeting common pathways shared by different CMT types. As promising treatments advance to clinical translation, optimizing outcome measures, novel biomarkers, and appropriate trial designs are crucial to facilitate successful testing and validation of novel treatments for CMT patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bahler, Alessandra Bolino
Summary: The study identified that novel or very rare variants in the MYO9B gene are associated with CMT2 and isolated OA. Functional studies showed that variants in MYO9B impair protein expression level and motor activity, indicating its essential role in peripheral and central nervous system axons.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Brett A. McCray, Steven S. Scherer
Summary: Inherited peripheral neuropathies are a group of genetically and phenotypically diverse disorders that result in degeneration of peripheral neurons, leading to sensory and motor dysfunction. Recent research has identified common pathological mechanisms among these diseases, including defects in axonal transport, mitochondrial dynamics, organelle-organelle contacts, and local axonal protein translation. These insights have informed emerging treatment strategies for inherited neuropathies, offering promising therapeutic opportunities.
Article
Health Care Sciences & Services
Jihyun Park, So Young Joo, Byung-Ok Choi, Dae-Hyun Kim, Jong Bum Park, Jong Weon Lee, Deog Young Kim
Summary: This study evaluated the characteristics of gait patterns in CMT1A patients and classified them according to disease severity. The results showed significant differences in gait parameters between CMT1A patients and healthy controls, as well as variations in gait patterns within different severity groups.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Clinical Neurology
Luce Barbat du Closel, Nathalie Bonello-Palot, Yann Pereon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Simon Frachet, Laurent Magy, Julien Cassereau, Pascal Cintas, Ariane Choumert, Perrine Devic, Sarah Leonard Louis, Robinson Gravier Dumonceau, Emilien Delmont, Emmanuelle Salort-Campana, Francoise Bouhour, Philippe Latour, Tanya Stojkovic, Shahram Attarian
Summary: This study investigated the clinical presentation of patients with CMTX1 and found that women usually have milder clinical symptoms compared to men. The study also identified two subgroups of women over the age of 48, with one group showing similar disease progression to men.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Xiaoxuan Liu, Ji He, Mubalake Yilihamu, Xiaohui Duan, Dongsheng Fan
Summary: Biallelic mutations in the SORD gene are a common cause of autosomal recessive axonal Charcot-Marie-Tooth (CMT2) and distal hereditary motor neuropathy (dHMN) in a large Chinese cohort. Patients with SORD mutations present with distal weakness, atrophy in the lower limb, and some may also have minor clinical sensory abnormalities and small fiber neuropathy.
FRONTIERS IN NEUROLOGY
(2021)
Article
Cell Biology
Cara R. Schiavon, Gerald S. Shadel, Uri Manor
Summary: CMT disease is a progressive, inherited neurological disorder associated with mutations in at least 80 different genes. Clinical manifestations typically involve peripheral neurons, with some mutations potentially leading to mitochondrial mobility defects, suggesting a common underlying disease mechanism.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Clinical Neurology
Paulo Jose Lorenzoni, Claudia Suemi Kamoi Kay, Renata Dal-Pra Ducci, Otto Jesus Hernandez Fustes, Lineu Cesar Werneck, Rosana Herminia Scola
Summary: This report describes a patient with CMT4C who developed myasthenia gravis, suggesting the need for further research to confirm whether genetic neuropathies may predispose to MG.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Alessandro Bertini, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Matteo Tagliapietra, Marina Grandis, Stefano Carlo Previtali, Yuri Matteo Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Irene Tramacere, Eleonora Cavalca, Paola Saveri, Andrea Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Valeria Prada, Riccardo Zuccarino, Francesco Ferraro, Chiara Pisciotta, Davide Pareyson, Italian CMT Network
Summary: This study investigated the use, benefits, and tolerance of shoe inserts, orthopaedic shoes, and ankle-foot orthoses (AFOs) in Charcot-Marie-Tooth disease (CMT) patients. The results showed that although most patients were prescribed these devices, there was a low usage rate and high rates of complications and emotional distress, leading to reduced use of AFOs. Thus, a patient-oriented and multidisciplinary approach to orthoses prescription should be encouraged.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Christopher P. Ptak, Tabitha A. Peterson, Jesse B. Hopkins, Christopher A. Ahern, Michael E. Shy, Robert C. Piper
Summary: Mutations in MPZ can cause various neurological disorders, and the study focuses on understanding how MPZ functions and forms oligomeric assemblies.
Article
Clinical Neurology
Peter Reilich, Beate Schlotter, Federica Montagnese, Berit Jordan, Friedrich Stock, Mario Schaeff-Vogelsang, Benjamin Hotter, Katherina Eger, Isabel Diebold, Hannes Erdmann, Kerstin Becker, Ulrike Schoen, Angela Abicht
Summary: More than 80 genes are associated with Charcot-Marie-Tooth disease (CMT), with mutations of LRSAM1 defining the subgroup of axonal neuropathy CMT2P. Variants in LRSAM1 present with variable inheritance patterns and challenges in interpretation due to clustering in 3'-prime exons. The importance of the C-terminal RING domain in LRSAM1 and the application of ACMG criteria for variant interpretation are emphasized.
NEUROMUSCULAR DISORDERS
(2021)
Article
Clinical Neurology
Dragan Vujovic, David R. Cornblath, Steven S. Scherer
Summary: A p.Ala406Val mutation in MORC2 was found in three individuals from two families, leading to severe neuropathy. Additionally, the first case of vinblastine neurotoxicity in Charcot-Marie-Tooth disease type 2Z was reported.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2021)
Article
Clinical Neurology
Marta Bellofatto, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Daniela Calabrese, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Chiara Pisciotta, Davide Pareyson
Summary: This study investigated fatigue in CMT patients and found that 36% of the patients experienced abnormal fatigue. Abnormal fatigue was correlated with disease severity, anxiety, depression, sleepiness, and obesity. Therefore, the management of CMT patients should involve treating fatigue and addressing other factors such as anxiety, depression, sleepiness, and obesity.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Marta Bellofatto, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano C. Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Daniela Calabrese, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Luca Gentile, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Chiara Pisciotta, Davide Pareyson
Summary: This study investigated the presence of fatigue and its correlations in Charcot-Marie-Tooth disease (CMT). The results showed that 36% of the patients had abnormal fatigue, which was correlated with disease severity, anxiety, depression, sleepiness, and obesity. Therefore, the management of CMT patients should include treatment for fatigue and its different generators.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Marta Bellofatto, Luca Gentile, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Lucio Santoro, Tiziana Cavallaro, Marina Grandis, Stefano Previtali, Marina Scarlato, Isabella Allegri, Luca Padua, Costanza Pazzaglia, Flavio Villani, Eleonora Cavalca, Paola Saveri, Aldo Quattrone, Paola Valentino, Stefano Tozza, Massimo Russo, Anna Mazzeo, Giuseppe Vita, Sylvie Piacentini, Giuseppe Didato, Chiara Pisciotta, Davide Pareyson, CMT Network
Summary: This study investigated the presence of sleep abnormalities in Charcot-Marie-Tooth disease (CMT) patients and their correlation with disease severity and characteristics. The results showed that CMT patients had poor sleep quality and daytime somnolence, which were associated with anxiety, depression, and fatigue.
JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Alessandro Dinoto, Elia Sechi, Sergio Ferrari, Alberto Gajofatto, Riccardo Orlandi, Paolo Solla, Alessandra Maccabeo, Giorgia Teresa Maniscalco, Vincenzo Andreone, Arianna Sartori, Paolo Manganotti, Sarah Rasia, Ruggero Capra, Chiara Rosa Mancinelli, Sara Mariotto
Summary: This retrospective multicenter Italian study assessed the frequency of relapses after SARS-CoV-2 vaccination in patients with MOGAD and AQP4-IgG+NMOSD. The study found that there was no relapse in the MOGAD group, while the relapse risk in the AQP4-IgG+ NMOSD group was 4%.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2022)
Article
Neurosciences
Paolo Solla, Carla Masala, Tommaso Ercoli, Gianni Orofino, Francesco Loy, Ilenia Pinna, Laura Fadda, Giovanni Defazio
Summary: This study found significant olfactory dysfunction in PD patients with the akinetic-rigid dominant (ARD) subtype, with a lower odor threshold compared to the tremor-dominant (TD) subtype. There may be different pathophysiological mechanisms between the different clinical subtypes of PD.
Article
Neurosciences
Paolo Solla, Tommaso Ercoli, Carla Masala, Gianni Orofino, Laura Fadda, Davide Giacomo Corda, Ignazio Roberto Zarbo, Mario Meloni, Elia Sechi, Caterina Francesca Bagella, Giovanni Defazio
Summary: This article reports three PD patients who developed a severe withdrawal syndrome after discontinuing the use of rasagiline. The syndrome was characterized by prominent psychiatric disorders and autonomic symptoms, resembling dopamine agonist withdrawal syndrome. This report highlights the importance of closely monitoring PD patients undergoing rasagiline suspension for withdrawal symptoms and provides interesting insights into the role of rasagiline and other MAO-B inhibitors in mood disorders.
Article
Clinical Neurology
Daniele Belvisi, Roberta Pellicciari, Andrea Fabbrini, Matteo Costanzo, Gaia Ressa, Sara Pietracupa, Maria De Lucia, Nicola Modugno, Francesca Magrinelli, Carlo Dallocchio, Tommaso Ercoli, Alessandra Nicoletti, Mario Zappia, Paolo Solla, Matteo Bologna, Giovanni Fabbrini, Michele Tinazzi, Antonella Conte, Alfredo Berardelli, Giovanni Defazio
Summary: This multicenter study aimed to investigate the relationship between risk factors and clinical motor and non-motor features in Parkinson's disease (PD) patients. The results showed that coffee consumption was associated with older age at onset and milder motor symptom severity. Patients with dyspepsia before PD had more severe non-motor symptoms, while patients who performed physical activity before PD had milder non-motor symptoms.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Medicine, Research & Experimental
Davide Sala, Francesca Ornaghi, Francesco Morena, Chiara Argentati, Manuela Valsecchi, Valeria Alberizzi, Roberta Di Guardo, Alessandra Bolino, Massimo Aureli, Sabata Martino, Angela Gritti
Summary: Combining lentiviral vector-based intracerebral gene therapy with bone marrow transplantation effectively extends lifespan and corrects neuroinflammatory and neurodegenerative phenotypes in SD mice, highlighting the synergic mode of action and therapeutic potential of this combined treatment strategy.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2022)
Article
Clinical Neurology
Silvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bahler, Alessandra Bolino
Summary: The study identified that novel or very rare variants in the MYO9B gene are associated with CMT2 and isolated OA. Functional studies showed that variants in MYO9B impair protein expression level and motor activity, indicating its essential role in peripheral and central nervous system axons.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Claudia Frau, Carla Masala, Paolo Solla, Tommaso Ercoli, Giovanni Defazio
NEUROLOGICAL SCIENCES
(2023)
Article
Biology
Paolo Solla, Carla Masala, Tommaso Ercoli, Claudia Frau, Caterina Bagella, Ilenia Pinna, Francesco Loy, Giovanni Defazio
Summary: Olfactory and cognitive disorders are important non-motor symptoms in Parkinson's disease. The association between specific cognitive domains and olfactory impairment in Parkinson's disease patients has not been clearly established. This study aimed to evaluate the relationship between olfactory dysfunction and specific cognitive domains in patients compared to controls. The data suggested a significant association between olfactory dysfunction and deficit in executive functions.
Review
Clinical Neurology
Alessandra Bolino, Maurizio D'Antonio
Summary: Charcot-Marie-Tooth (CMT) neuropathies, despite a large number of identified causative genes, lack effective therapeutic options. However, recent advances in understanding disease mechanisms, animal modeling, and gene and molecular therapies have greatly improved the prospects of treating CMT, with several strategies progressing towards clinical trials.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Letter
Clinical Neurology
Paolo Solla, Qian Wang, Carla Masala
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Neurosciences
Paolo Solla, Qian Wang, Claudia Frau, Valentina Floris, Francesco Loy, Leonardo Antonio Sechi, Carla Masala
Summary: The study aimed to determine whether olfactory impairment and other clinical characteristics can predict higher scores on the RBD screening questionnaire (RBDSQ) in PD patients. The severity of olfactory impairment was found to be closely correlated with RBD symptoms, and the study confirmed the presence of gender differences in RBD in PD patients.
Article
Biology
Carla Masala, Paolo Solla, Francesco Loy
Summary: Many studies have shown significant associations between olfactory function and cognitive abilities in healthy individuals. However, the gender-related association between olfactory function and specific cognitive domains of the Cognitive Reserve Index (CRI) questionnaire has not been investigated. This study aimed to determine gender-related differences in the relationship between olfactory function and specific cognitive domains of the CRI questionnaire in healthy subjects.
Letter
Clinical Neurology
Francesca Pinna, Davide Corda, Chiara Fois, Alessandra Maccabeo, Gian Pietro Sechi, Paolo Solla
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2023)
Review
Neurosciences
Tommaso Ercoli, Francesco Barbato, Alessandro Bombaci, Luca Cuffaro, Francesco Di Lorenzo, Francesco Iodice, Michele Romoli, Paolo Solla, Giovanni Defazio
Summary: This study investigates the impact of COVID-19 on neurology training programs, collecting data on residents' experiences worldwide. The findings show significant effects of the pandemic on neurology training programs, emphasizing the importance of resilience and flexibility in medical education.
Article
Immunology
Roberto Littera, Andrea Perra, Michela Miglianti, Ignazio S. Piras, Stefano Mocci, Sara Lai, Maurizio Melis, Teresa Zolfino, Cinzia Balestrieri, Maria Conti, Giancarlo Serra, Francesco Figorilli, Davide Firinu, Simona Onali, Laura Matta, Carmen Porcu, Francesco Pes, Daniela Fanni, Cristina Manieli, Monica Vacca, Roberto Cusano, Marcello Trucas, Selene Cipri, Stefania Tranquilli, Stefania Rassu, Federica Cannas, Mauro Giovanni Carta, Marta Anna Kowalik, Erika Giuressi, Gavino Faa, Luchino Chessa, Sabrina Giglio
Summary: This study highlights the positive immunomodulatory effect of HLA-G molecules on the clinical course of AIH-1 and how this improvement closely correlates with plasma levels of sHLA-G. However, the ambiguous role of HLA-G molecules expressed by plasma cells, which are pathognomonic features of AIH-1, raises a debate.
FRONTIERS IN IMMUNOLOGY
(2022)