Article
Multidisciplinary Sciences
Yotam Blech-Hermoni, Kalpana Subedi, Maya Silver, Leah Jensen, Stephen Coscia, Malcolm M. Kates, Yongmei Zhao, Castle Raley, Nancy Edwards, Bao Tran, Abhik Ray-Chaudhary, Pankaj Pathak, Ami Mankodi
Summary: LDB3, a member of the Enigma family of PDZ-LIM proteins, is widely expressed in the central and peripheral nervous system and plays important roles in actin cytoskeleton remodeling and neural development. Alternative splicing of LDB3 in neurons suggests splicing-dependent regulation of its expression. The expression of LDB3 in various regions of the brain and its interaction with other proteins indicate its relevance in motor planning, execution, and neurogenic manifestations in muscle diseases.
SCIENTIFIC REPORTS
(2023)
Review
Biochemistry & Molecular Biology
Kirsty Wadmore, Amar J. Azad, Katja Gehmlich
Summary: The Z-disc is crucial for maintaining the structure and signaling function of the sarcomere in muscle cells. Six key Z-disc proteins, associated with myopathies and cardiomyopathies, play a significant role in force transduction and intracellular signaling. Evaluating the pathogenic variants and minor allele frequency of these proteins in population cohorts can help in re-evaluating their pathogenicity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Valeria Guglielmi, Elia Pancheri, Elena Cannone, Vincenzo Nigro, Manuela Malatesta, Andrea Vettori, Alejandro Giorgetti, Annalaura Torella, Stefania Aurino, Barbara Cisterna, Giulia Marchetto, Giuliano Tomelleri, Paola Tonin, Marco Schiavone, Gaetano Vattemi
Summary: Missense mutations in MYOT gene cause muscle diseases with different phenotypes. We identified a novel deletion (Tyr4_His9del) in MYOT gene, and found that it causes early-onset myofibrillar myopathy with distal muscle weakness. Further experiments in zebrafish embryos confirmed the importance of the amino acid sequence in myotilin protein for the sarcomeric organization of myofibers.
Article
Clinical Neurology
Stefan Nicolau, Margherita Milone, Jennifer A. Tracy, John R. Mills, James D. Triplett, Teerin Liewluck
Summary: IMNM patients can present with atypical clinical and histological features, leading to delays in diagnosis and treatment. Despite these atypical findings, clinicians should consider IMNM as a possible cause of unexplained proximal myopathies. Immunomodulatory therapy has shown to be effective in all patients.
Article
Clinical Neurology
Conrad C. Weihl, Ana Topf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Dominguez-Gonzalez, Abdulaziz Alsaman, Aurelio Hernandez-Lain, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olive, Gianina Ravenscroft, Volker Straub
Summary: This article reports a novel chaperonopathy associated with the DNAJB4 gene, causing muscle weakness and early respiratory failure. Loss of DNAJB4 function may lead to the accumulation of its client proteins, resulting in muscle dysfunction and degeneration.
ACTA NEUROPATHOLOGICA
(2023)
Article
Veterinary Sciences
Melissa Gunther, Jared A. Jaffey, Jason Evans, Christopher Paige
Summary: A 4-year-old male dog presented with increased serum creatine kinase (CK) enzyme activity, alanine transferase, and aspartate aminotransferase enzyme activities, but remained subclinical with no clinical abnormalities. Differential diagnoses considered were an occult hereditary muscular dystrophic disorder or idiopathic hyperCKemia.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Biotechnology & Applied Microbiology
Zoe J. Williams, Deborah Velez-Irizarry, Keri Gardner, Stephanie J. Valberg
Summary: Myofibrillar myopathy in Warmblood horses is a late-onset disease characterized by Z-disc signaling impairment, decreased mitochondrial complex I expression, and a pro-oxidative cellular environment. These molecular signatures may provide insight into diagnostic biomarkers and potential treatments for the disease.
Article
Clinical Neurology
Christopher Grunseich, Nathan Sarkar, Joyce Lu, Mallory Owen, Alice Schindler, Peter A. Calabresi, Charlotte J. Sumner, Ricardo H. Roda, Vinay Chaudhry, Thomas E. Lloyd, Thomas O. Crawford, S. H. Subramony, Shin J. Oh, Perry Richardson, Kurenai Tanji, Justin Y. Kwan, Kenneth H. Fischbeck, Ami Mankodi
Summary: Integrating deep phenotyping, gene filter algorithms, and biological assays increased the diagnostic yield of exome sequencing, identified novel pathogenic variants, and extended the phenotypes of difficult-to-diagnose rare neurogenetic disorders in an outpatient clinic setting.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Health Care Sciences & Services
Abdallah Fayssoil, Nicolas Mansencal, Jean Bergounioux, Karim Wahbi, Tanya Stojkovic
Summary: This study investigates the impact of mechanical ventilation on cardiac function in patients with neuromuscular disorders. The results show that during ventilation setting modifications or introduction, it is crucial to focus on the systolic and diastolic functions of the right and left ventricles. These findings provide important information for the diagnosis and treatment of patients.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Multidisciplinary Sciences
Ziad Al Tanoury, John F. Zimmerman, Jyoti Rao, Daniel Sieiro, Harold M. McNamara, Thomas Cherrier, Alejandra Rodriguez-delaRosa, Aurore Hick-Colin, Fanny Bousson, Charlotte Fugier-Schmucker, Fabio Marchiano, Bianca Habermann, Jerome Chal, Alexander P. Nesmith, Svetlana Gapon, Erica Wagner, Vandana A. Gupta, Rhonda Bassel-Duby, Eric N. Olson, Adam E. Cohen, Kevin Kit Parker, Oliver Pourquie
Summary: This study introduces an in vitro human model to investigate the pathology of Duchenne muscular dystrophy (DMD) and test new therapeutic approaches. The researchers describe an optimized protocol for differentiating human induced pluripotent stem cells (iPSC) to a late myogenic stage, which allows them to replicate classic DMD phenotypes in isogenic DMD-mutant iPSC lines. Treatment with prednisolone significantly improves muscle function in DMD iPSC lines, challenging the prevailing view that its benefits are solely due to anti-inflammatory properties.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Nobuyuki Eura, Satoru Noguchi, Masashi Ogasawara, Theerawat Kumutpongpanich, Shinichiro Hayashi, Ichizo Nishino
Summary: This study identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history, which will help in appropriate intervention based on the diagnosis of OPDM.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Susana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, John Vissing, Francina Munell, Francois Rivier, Tanya Stojkovic, Edoardo Malfatti, Marta Gomez Garcia de la Banda, Giorgio Tasca, Laura Costa Comellas, Audrey Benezit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforet, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Beroud, Jana Zidkova, Nicolas Leboucq, Nicoline Lokken, Angel Sanchez-Montanez, Ximena Ortega, Martin Kyncl, Corinne Metay, David Gomez-Andres, Robert Y. Carlier
Summary: Patients with LAMA2-RD exhibit a consistent pattern of abnormal muscle fat replacement in muscle imaging, which serves as a supportive diagnostic tool. Thigh muscles appear to be the most informative for assessing disease progression.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Maohua Li, Jiandi Huang, Min Liu, Chunmei Duan, Hong Guo, Xiaoyan Chen, Yue Wang
Summary: This study presents a 50-year-old female patient with Bethlem myopathy caused by a novel heterozygous mutation in the COL6A3 gene. The patient showed symptoms of facial weakness since childhood, and the disease gradually progressed with age. This finding expands the clinical spectrum and genetic heterogeneity of Bethlem myopathy.
FRONTIERS IN NEUROLOGY
(2023)
Article
Biology
Pankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K. Sharan, Ami Mankodi
Summary: This research demonstrates that the LDB3 protein regulates mechanical stress signaling through interactions with filamin C, HSPA8, and PKC alpha. Mutations in LDB3 lead to early aggregation of filamin C and its chaperones at the muscle Z-disc, ultimately causing protein aggregation myopathy.
COMMUNICATIONS BIOLOGY
(2021)
Article
Clinical Neurology
Daniel Natera-de Benito, Sergio Aguilera-Albesa, Laura Costa-Comellas, Mar Garcia-Romero, Maria Concepcion Miranda-Herrero, Julia Rubies Olives, Oscar Garcia-Campos, Elena Martinez del Val, Maria Josefa Martinez Garcia, Inmaculada Medina Martinez, Ramon Cancho-Candela, Miguel A. Fernandez-Garcia, Samuel Ignacio Pascual-Pascual, David Gomez-Andres, Andres Nascimento
Summary: This study described the clinical characteristics and outcomes of COVID-19 in 29 children with neuromuscular disorders, showing that no severe complications were observed and the majority of cases were asymptomatic or mild.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Daniel B. Simmons, Julie Lanning, James C. Cleland, Araya Puwanant, Paul T. Twydell, Robert C. Griggs, Rabi Tawil, Eric L. Logigian
Review
Pediatrics
Qing Ke, Zheng-Yan Zhao, Jerry R. Mendell, Mei Baker, Veronica Wiley, Jennifer M. Kwon, Lindsay N. Alfano, Anne M. Connolly, Catherine Jay, Hanna Polari, Emma Ciafaloni, Ming Qi, Robert C. Griggs, Michele A. Gatheridge
WORLD JOURNAL OF PEDIATRICS
(2019)
Article
Oncology
Monika B. Dolinska, Paul T. Wingfield, Kenneth L. Young, Yuri V. Sergeev
PIGMENT CELL & MELANOMA RESEARCH
(2019)
Review
Clinical Neurology
Mei Baker, Robert Griggs, Barry Byrne, Anne M. Connolly, Richard Finkel, Lucja Grajkowska, Amanda Haidet-Phillips, Laura Hagerty, Robert Ostrander, Lianna Orlando, Kathryn Swoboda, Michael Watson, R. Rodney Howell
Letter
Clinical Neurology
Robert C. Griggs, Jerry R. Mendell
Article
Clinical Neurology
Emma Ciafaloni, Fredric Cohen, Robert Griggs
PEDIATRIC NEUROLOGY
(2019)
Article
Biochemistry & Molecular Biology
Norman R. Watts, Ira W. Palmer, Elif Eren, Alasdair C. Steven, Paul T. Wingfield
Article
Biochemistry & Molecular Biology
Monika B. Dolinska, Kenneth L. Young, Claudia Kassouf, Emilios K. Dimitriadis, Paul T. Wingfield, Yuri V. Sergeev
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Clinical Neurology
Alexander Kushnir, Joshua J. Todd, Jessica W. Witherspoon, Qi Yuan, Steven Reiken, Harvey Lin, Ross H. Munce, Benjamin Wajsberg, Zephan Melville, Oliver B. Clarke, Kaylee Wedderburn-Pugh, Anetta Wronska, Muslima S. Razaqyar, Irene C. Chrismer, Monique O. Shelton, Ami Mankodis, Christopher Grunseich, Mark A. Tarnopolsky, Kurenai Tanji, Michio Hirano, Sheila Riazi, Natalia Kraeva, Nicol C. Voermans, Angela Gruber, Carolyn Allen, Katherine G. Meilleur, Andrew R. Marks
ACTA NEUROPATHOLOGICA
(2020)
Article
Clinical Neurology
Ranjini Srinivasan, Pomi Yun, Sarah Neuhaus, Payam Mohassel, Jahannaz Dastgir, Sandra Donkervoort, Alice Schindler, Ami Mankodi, A. Reghan Foley, Andrew E. Arai, Carsten G. Bonnemann
NEUROMUSCULAR DISORDERS
(2020)
Article
Clinical Neurology
Chia-Ying Liu, Jianhua Yao, William C. Kovacs, Joseph A. Shrader, Galen Joe, Ronald Ouwerkerk, Ami K. Mankodi, William A. Gahl, Ronald M. Summers, Nuria Carrillo
Summary: This study characterized muscle involvement and disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy. The findings showed that muscle volume correlated with strength, function, and patient-reported outcomes, indicating the potential of MRI biomarkers to monitor disease progression noninvasively.
Editorial Material
Clinical Neurology
Montse Olive, Lilli Winter, Dieter O. Fuerst, Rolf Schroeder
NEUROMUSCULAR DISORDERS
(2021)
Article
Biology
Pankaj Pathak, Yotam Blech-Hermoni, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K. Sharan, Ami Mankodi
Summary: This research demonstrates that the LDB3 protein regulates mechanical stress signaling through interactions with filamin C, HSPA8, and PKC alpha. Mutations in LDB3 lead to early aggregation of filamin C and its chaperones at the muscle Z-disc, ultimately causing protein aggregation myopathy.
COMMUNICATIONS BIOLOGY
(2021)
Review
Clinical Neurology
Bas C. Stunnenberg, Joost Berends, Robert C. Griggs, Jeffrey Statland, Gea Drost, Jane Nikles, Hans Groenewoud, Baziel G. M. van Engelen, Wilt Jan van der Gert, Joost Raaphorst
Summary: This study conducted a systematic review of published N-of-1 trials in neurologic disorders, focusing on methodological quality and reporting. Most trials were in neuromuscular and neurodegenerative/movement disorders, with applications in stable chronic conditions and progressive or acute disorders. N-of-1 trials show potential for bridging the gap between research and clinical care by providing a personalized evidence base for suitable treatments.
Article
Clinical Neurology
Marco Savarese, Mridul Johari, Katherine Johnson, Meharji Arumilli, Annalaura Torella, Ana Topf, Anna Rubegni, Marius Kuhn, Teresa Giugliano, Dieter Glaeser, Fabiana Fattori, Rachel Thompson, Sini Penttila, Sara Lehtinen, Sara Gibertini, Alessandra Ruggieri, Marina Mora, Ales Maver, Borut Peterlin, Ami Mankodi, Hanns Lochmueller, Filippo Maria Santorelli, Benedikt Schoser, Lenka Fajkusova, Volker Straub, Vincenzo Nigro, Peter Hackman, Bjarne Udd
JOURNAL OF NEUROMUSCULAR DISEASES
(2020)