Review
Medicine, General & Internal
Camille Bouchard, Jacques P. Tremblay
Summary: This review article presents 39 genes associated with limb-girdle muscular dystrophies (LGMDs), which can be inherited dominantly or recessively. The classification of LGMDs has evolved over time and now requires a mutation causing proximal muscle weakness found in multiple unrelated families. The article also discusses available and developing therapies for LGMDs, aiming to address the root cause of the disease instead of treating individual symptoms.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Clinical Neurology
Issa Alawneh, Ana Stosic, Hernan Gonorazky
Summary: This article discusses the study of limb girdle muscle dystrophies (LGMDs) using muscle magnetic resonance imaging (MRI) for diagnosis and understanding of the disease. A systematic review found that muscle MRI patterns have been described for 15 out of 17 types of LGMDs. Despite the challenging diagnosis of LGMDs, muscle MRI can aid in diagnosis. Larger cohorts of patients are needed to further enhance the application of muscle MRI in the neuromuscular field.
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Nam Chung Tran, Nguyen Thi Kim Lien, Thanh Dat Ta, Van Hung Nguyen, Huy Thinh Tran, Nguyen Van Tung, Nguyen Thi Xuan, Nguyen Huy Hoang, Van Khanh Tran
Summary: This study reports the genetic analysis results of six limb-girdle muscular dystrophy (LGMD) patients from four different Vietnamese families. The mutations in the SGCA and CAPN3 genes were identified as the cause of the disease in these patients. These findings contribute to the understanding of the disease etiology and provide the basis for definitive diagnosis, genetic counseling, and prenatal screening.
FRONTIERS IN GENETICS
(2023)
Article
Biology
Maria Guarnaccia, Laura Guarnaccia, Valentina La Cognata, Stefania Elena Navone, Rolando Campanella, Antonella Ampollini, Marco Locatelli, Monica Miozzo, Giovanni Marfia, Sebastiano Cavallaro
Summary: The study developed a targeted next-generation sequencing approach for analyzing genetic variations and chromosomal aberrations in gliomas, which can provide accurate and specific assessment of tumor pathogenesis, prognosis, and treatment response. This has important implications for the diagnosis and treatment of gliomas.
Article
Biochemistry & Molecular Biology
Celine Bruge, Marine Geoffroy, Manon Benabides, Emilie Pellier, Evelyne Gicquel, Jamila Dhiab, Lucile Hoch, Isabelle Richard, Xavier Nissan
Summary: This study introduces a platform for modeling LGMD using hiPSC, providing a renewable and alternative source of skMC for studying LGMD.
Article
Clinical Neurology
Martin Krenn, Matthias Tomschik, Matias Wagner, Gudrun Zulehner, Rosa Weng, Jakob Rath, Sigrid Klotz, Ellen Gelpi, Gabriel Bsteh, Omar Keritam, Isabella Colonna, Chiara Paternostro, Fiona Jaeger, Elisabeth Lindeck-Pozza, Stephan Iglseder, Susanne Grinzinger, Martina Schoenfelder, Christina Hohenwarter, Manfred Freimueller, Norbert Embacher, Julia Wanschitz, Raffi Topakian, Ana Toepf, Volker Straub, Stefan Quasthoff, Fritz Zimprich, Wolfgang N. Loescher, Hakan Cetin
Summary: The study focused on hereditary myopathies with limb-girdle muscular weakness (LGW) and found that using next-generation sequencing (NGS) earlier in the diagnostic process is necessary to avoid long delays in diagnosis. Parameters predictive of a molecular diagnosis were identified, which can help select patients for genetic analyses, especially in centers with limited access to sequencing technology.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Jose Luis Garcia-Gimenez, Elena R. Garcia-Trevijano, Ana Aviles-Alia, Jose Santiago Ibanez-Cabellos, Miquel Bovea-Marco, Teresa Bas, Federico Pallardo, Juan R. Vina, Rosa Zaragoza
Summary: This study identified a potential molecular signature consisting of circulating miR-122-5p/miR-192-5p/miR-323-3p and biochemical parameters that could be used for prognosis and stratification of patients with limb-girdle muscular dystrophy (LGMD).
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Orthopedics
Meredith K. James, Lindsay N. Alfano, Robert Muni-Lofra, Natalie F. Reash, Jassi Sodhi, Megan A. Iammarino, Dionne Moat, Kianna Shannon, Michelle McCallum, Mark Richardson, Michelle Eagle, Volker Straub, Chiara Marini-Bettolo, Linda P. Lowes, Anna G. Mayhew
Summary: The North Star Assessment for limb-girdle type muscular dystrophies (NSAD) is a reliable and valid clinician-reported outcome measure (ClinRO) of motor performance for individuals with limb-girdle muscular dystrophy (LGMD). This study found that NSAD can effectively assess motor function across a broad spectrum of LGMD phenotypes. It demonstrated good spread of items, excellent interrater reliability, and high correlation with other assessment scores. The NSAD is suitable for use in clinical practice and research settings.
Article
Oncology
Yu Zhang, Takahiko Nishiyama, Eric N. Olson, Rhonda Bassel-Duby
Summary: Muscular dystrophies are a group of neuromuscular disorders with genetic causes that lead to muscle loss and degeneration. The CRISPR/Cas system offers a new path for treatment, potentially correcting genetic mutations permanently and benefiting skeletal muscle due to its post-mitotic and multinucleated features. However, challenges remain for translating CRISPR/Cas genome editing into a viable therapy for muscular dystrophies.
EXPERIMENTAL CELL RESEARCH
(2021)
Article
Transplantation
M. Adela Mansilla, Ramakrishna R. Sompallae, Carla J. Nishimura, Anne E. Kwitek, Mycah J. Kimble, Margaret E. Freese, Colleen A. Campbell, Richard J. Smith, Christie P. Thomas
Summary: Genetic testing was found to be valuable in the evaluation of renal patients, with a high diagnostic rate in patients and the potential to change clinical diagnosis. The study highlights the importance of incorporating broad genetic testing in the management of kidney diseases.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Genetics & Heredity
Alesa Kristan, Tadej Pajic, Ales Maver, Tadeja Rezen, Tanja Kunej, Rok Kolic, Andrej Vuga, Martina Fink, Spela Zula, Helena Podgornik, Sasa Anzej Doma, Irena Preloznik Zupan, Damjana Rozman, Natasa Debeljak
Summary: An erythrocytosis is characterized by an increase in red blood cell mass, often associated with genetic variants in genes related to oxygen sensing, hematopoietic cell maturation, and oxygen transfer. Classical sequencing approaches may only provide a correct diagnosis for a fraction of patients with congenital erythrocytosis, as the genetic background of the disorder is more complex and involves additional genes. A targeted next-generation sequencing approach was used in this study to identify genetic variants in patients with unexplained erythrocytosis, leading to the discovery of pathogenic and novel variants in relevant genes, as well as the identification of potential associations with iron metabolism genes. This study contributes to improving the diagnosis and management of Slovenian patients with erythrocytosis and provides insights for future research into the etiology of this rare hematological disorder.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
You-Kang Chang, Hui-Hwa Tseng, Chung-Man Leung, Kuo-Cheng Lu, Kuo-Wang Tsai
Summary: This study investigates the relationship between oncogenic and tumor-suppressive gene mutations and the outcomes of patients with rectal carcinoma receiving neoadjuvant chemoradiotherapy (nCRT). The results suggest that mutations in BRAF, SMAD4, and TP53 genes may be associated with the response to nCRT in patients with rectal adenocarcinoma.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Qian Chen, Wen Zheng, Hongbo Xu, Yan Yang, Zhi Song, Lamei Yuan, Hao Deng
Summary: This article describes an attempt to identify the genetic cause(s) for a Limb-girdle muscular dystrophies (LGMD) pedigree using a combination of whole exome sequencing and Sanger sequencing. The study found that digenic variants in the titin gene (TTN) and the trafficking protein particle complex 11 gene (TRAPPC11) co-segregated with the disease phenotype in the family, suggesting their possible pathogenicity.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Genetics & Heredity
Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari
Summary: This study aimed to investigate the genetic causes of end-stage renal disease (ESRD) in Saudi kidney disease patients, using a targeted next-generation sequencing gene panel. The results identified several genetic variants associated with ESRD and CKD in this population, including novel variants not previously reported in other populations. Further studies are needed to validate these findings in larger sample sizes and different ethnic groups.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Pablo Brea Winckler, Bruna Cristine Chwal, Marco Antonnio Rocha Dos Santos, Daniela Burguez, Marcia Polese-Bonatto, Edmar Zanoteli, Marina Siebert, Filippo Pinto e Vairo, Marcia Lorena Fagundes Chaves, Jonas Alex Morales Saute
Summary: This study evaluated the effectiveness of a next-generation sequencing panel comprising 39 genes as the first-tier test for genetic myopathies diagnosis and characterized clinical and molecular findings of families from southern Brazil. The results showed a high diagnostic yield of the panel, reducing the time for patient diagnosis and providing important information for genetic counseling and disease-specific clinical trials.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Miriam Hiebeler, Markus Reinholz, Michael Flaig, Christian Schmidt, Benedikt Schoser, Thomas Herzinger, Angela Abicht, Peter Reilich
Summary: This article reports a case of follicular mycosis fungoides with extensive muscular and subcutaneous fatty tissue infiltration, leading to rapid disease progression and a fatal outcome.
NEUROMUSCULAR DISORDERS
(2022)
Letter
Rheumatology
Isabell Cordts, Judith S. Hecker, Darja Gauck, Joohyun Park, Johanna Haertl, Roman Guenthner, Ariane Hammitzsch, Benedikt Schoser, Dietrich Abeck, Katharina S. Goetze, Tobias B. Haack, Marcus Deschauer, Philipp Moog, Bernhard Hemmer
Article
Pathology
Ana Carrasco-Rozas, Esther Fernandez-Simon, Xavier Suarez-Calvet, Patricia Pinol-Jurado, Jorge Alonso-Perez, Noemi de Luna, Benedikt Schoser, Peter Meinke, Cristina Dominguez-Gonzalez, Aurelio Hernandez-Lain, Carmen Paradas, Eloy Rivas, Isabel Illa, Montse Olive, Eduard Gallardo, Jordi Diaz-Manera
Summary: The study found that BNIP3 expressed in muscle biopsies of late-onset Pompe disease (LOPD) patients may be a potential mediator of muscle fiber atrophy, and its expression is regulated by the AKT-mTOR pathway. These results suggest a cascade leading to progressive muscle fiber atrophy.
AMERICAN JOURNAL OF PATHOLOGY
(2022)
Article
Clinical Neurology
Hannes Erdmann, Florian Schoeberl, Madalina Giurgiu, Rafaela Magalhaes Leal Silva, Veronika Scholz, Florentine Scharf, Martin Wendlandt, Stephanie Kleinle, Marcus Deschauer, Georg Nuebling, Wolfgang Heide, Sait Seymen Babacan, Christine Schneider, Teresa Neuhann, Katrin Hahn, Benedikt Schoser, Elke Holinski-Feder, Dieter A. Wolf, Angela Abicht
Summary: Erdmann et al. developed and validated a method called Clin-CATS for the parallel analysis of repeat loci associated with hereditary ataxias. Using this method, they identified causative repeat expansions in 28 out of 100 undiagnosed patients, including biallelic expansions in RFC1. This amplification-free method allows for more precise and simultaneous analysis of repeat loci, contributing to the diagnosis of phenotypically overlapping repeat expansion disorders.
Article
Clinical Neurology
Elena Sagerer, Corinna Wirner, Benedikt Schoser, Stephan Wenninger
Summary: This study characterized muscle pain in SMA type 3 patients and found that it is associated with muscular weakness in the arms and legs, but not with changes in muscular stiffness, frequency, decrement, relaxation, or creep.
JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Anne-Katrin Guettsches, Nancy Meyer, Rene P. Zahedi, Teresinha Evangelista, Thomas Muentefering, Tobias Ruck, Emmanuelle Lacene, Christoph Heute, Humberto Gonczarowska-Jorge, Benedikt Schoser, Sabine Krause, Andreas Hentschel, Matthias Vorgerd, Andreas Roos
Summary: Dominant VCP mutations cause neurological manifestations and protein dysregulation. The increase of FYCO1 protein in VCP-mutant fibroblasts is associated with autophagosome transport. Treatment with arimoclomol drug improves cellular cytotoxicity.
Article
Biology
Tina Donandt, Stefan Hintze, Sabine Krause, Eckhard Wolf, Benedikt Schoser, Maggie C. Walter, Peter Meinke
Summary: Duchenne muscular dystrophy (DMD) is a common genetic disease in childhood, but there is no curative treatment yet. We established DMD pig models and an in vitro model for testing new therapies. This has significant implications for minimizing the use of live animals and supporting the 3R principle.
Article
Clinical Neurology
Marko Mijic, Benedikt Schoser, Peter Young
Summary: This study investigates the changes in SEPs caused by an acute stroke after 2 weeks of rehabilitation with FES and the correlation between SEPs and the efficacy of FES against FD stroke symptoms. The results show that FES intervention can modify pathological gait and improve SEP afferent feedback.
NEUROLOGICAL SCIENCES
(2023)
Letter
Clinical Neurology
Hannes Erdmann, Florentine Scharf, Ariane Hallermayr, Hayk Barseghyan, Maggie C. Walter, Elke Holinski-Feder, Benedikt Schoser, Angela Abicht
Article
Clinical Neurology
Kristina Gutschmidt, Corinna Wirner-Piotrowski, Natalia Garcia Angarita, Federica Montagnese, Benedikt Schoser, Stephan Wenninger
Summary: Chronic hypoventilation due to involvement of respiratory muscles is a frequent symptom in autosomal dominant inherited myotonic dystrophies, especially in type 1 (DM1), leading to reduced quality of life, ventilatory support, or premature death. In this study, the Respicheck questionnaire was found to be a clinically meaningful screening tool for ventilatory impairment in DM1 and DM2 patients, with higher sensitivity and positive predictive value for DM1 patients. The results confirm the importance of early detection of respiratory impairments in DM1 patients for further diagnostic and therapeutic measures.
NEUROMUSCULAR DISORDERS
(2023)
Article
Biology
Tina Donandt, Vanessa Todorow, Stefan Hintze, Alexandra Graupner, Benedikt Schoser, Maggie C. Walter, Peter Meinke
Summary: Mutations in the DMD gene can lead to Duchenne or Becker muscular dystrophy by affecting dystrophin isoforms. This study investigated the nuclear localization of short dystrophin isoforms in myoblast cultures from humans, pigs, and mice. Dp71 and Dp40 isoforms were found in the nucleoplasm and at the nuclear envelope, with a wave-like pattern of nuclear presence observed during muscle differentiation. This highlights the importance of the porcine model in researching DMD.
Article
Clinical Neurology
Katharina Lukas, Kristina Gutschmidt, Benedikt Schoser, Stephan Wenninger
Summary: In this study, a novel handheld non-invasive myometer device MyotonPRO(& REG;) was used to test muscle strength, elasticity, and stiffness in different neuromuscular diseases and provide reference values. However, this device could not accurately distinguish between healthy individuals and neuromuscular patients, nor differentiate the muscle stiffness or decreased muscle tone in different disease groups. In contrast, traditional standard muscle tests could clearly differentiate between healthy controls and neuromuscular patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Eva Heidsieck, Kristina Gutschmidt, Benedikt Schoser, Stephan Wenninger
Summary: The study evaluated the suitability of the Respicheck questionnaire in monitoring the efficacy of inspiratory muscle training (IMT). Results showed significant improvement in pulmonary function tests for patients in the training group, but no improvement was observed in the Respicheck score and Epworth sleepiness scale. This suggests that improvement in respiratory function may not necessarily correlate with clinical improvement, or that respiratory muscle weakness is not the sole cause of hypoventilation syndrome, or that both questionnaires are not sensitive enough to detect subtle clinical changes.
NEUROMUSCULAR DISORDERS
(2023)
