Article
Geriatrics & Gerontology
Christopher R. Heier, Nikki M. McCormack, Christopher B. Tully, James S. Novak, Breanne L. Newell-Stamper, Alan J. Russell, Alyson A. Fiorillo
Summary: Becker muscular dystrophy (BMD) is a genetic neuromuscular disease caused by mutations in the dystrophin gene. Unlike Duchenne muscular dystrophy, BMD is less severe. However, there is a lack of research and treatment options for BMD, partly due to the absence of a mouse model.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Review
Clinical Neurology
Patricia Soblechero-Martin, Andrea Lopez-Martinez, Laura de la Puente-Ovejero, Ainara Vallejo-Illarramendi, Virginia Arechavala-Gomeza
Summary: Utrophin is a paralogue of dystrophin that can be overexpressed in the absence of dystrophin and may act as a surrogate to compensate for its deficiency. Various strategies to overexpress utrophin are being investigated, with many compounds showing promising results in preclinical studies by modulating utrophin expression and ameliorating the disease phenotype in animal models.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Stephanie Hilton, Matthias Christen, Thomas Bilzer, Vidhya Jagannathan, Tosso Leeb, Urs Giger
Summary: This study describes a clinically mild and slowly progressive muscular dystrophy in a family of Maine Coon crossbred cats. The cats exhibit marked structural changes in their muscles, but protein modeling suggests that the identified gene variant may not have a major impact on protein function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
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
Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A. Harrison, William Mandy, David Skuse, Francesco Muntoni
Summary: Duchenne muscular dystrophy (DMD) patients, in addition to muscle loss, also experience intellectual disability and neurobehavioral co-morbidities. This study shows that boys with DMD exhibit increased startle responses to threat, similar to a DMD mouse model, and these responses normalize with dystrophin restoration.
Review
Behavioral Sciences
Amanda Ferrero, Marta Rossi
Summary: This article reviews the research on cognitive, behavioral and psychosocial functioning of BMD patients. It found that BMD patients commonly experience cognitive impairment and emotional/behavioral disorders, and the lack of specific proteins can lead to intellectual disability and other brain-related comorbidities.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Review
Clinical Neurology
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen, Hualin Sun
Summary: Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disease, characterized by deterioration of skeletal muscle and loss of mobility. The failure of respiratory and cardiac muscles is the main cause of premature death in most DMD patients. Dystrophin deficiency, caused by mutations in the dystrophin gene, plays a crucial role in the pathogenesis of DMD, leading to muscle cell damage and dysfunction.
JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Carlos Pascual-Morena, Vicente Martinez-Vizcaino, Alicia Saz-Lara, Jose Francisco Lopez-Gil, Jaime Fernandez-Bravo-Rodrigo, Ivan Cavero-Redondo
Summary: Dystrophin alterations in Becker and Duchenne muscular dystrophies are associated with an increased risk of epilepsy. This study aimed to estimate the prevalence of epilepsy in BMD and DMD populations and explore the association between dystrophin gene mutation site and epilepsy risk. The results showed a higher prevalence of epilepsy in BMD and DMD populations compared to the general population, but no significant association was found between mutation site and epilepsy risk.
JOURNAL OF NEUROLOGY
(2022)
Article
Cell Biology
Jerry R. Mendell, Perry B. Shieh, Craig M. McDonald, Zarife Sahenk, Kelly J. Lehman, Linda P. Lowes, Natalie F. Reash, Megan A. Iammarino, Lindsay N. Alfano, Brenna Sabo, Jeremy D. Woods, Christy L. Skura, Howard C. Mao, Loretta A. Staudt, Danielle A. Griffin, Sarah Lewis, Shufang Wang, Rachael A. Potter, Teji Singh, Louise R. Rodino-Klapac
Summary: Delandistrogene moxeparvovec (SRP-9001) is a gene transfer therapy that effectively improves SRP-9001 dystrophin expression and shows promising results in patients with Duchenne muscular dystrophy. However, differences in baseline motor function between different age groups may confound the evaluation of treatment effectiveness.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Geriatrics & Gerontology
Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung-Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Summary: This study highlights the importance of considering the expected effects of DMD mutations on dystrophin isoform production when evaluating motor impairments in DMD patients. Mutations that disrupt Dp140 and Dp71 are found to have a complex relationship with motor outcomes.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Biochemistry & Molecular Biology
Anna Codina, Monica Roldan, Daniel Natera-de Benito, Carlos Ortez, Robert Planas, Leslie Matalonga, Daniel Cuadras, Laura Carrera, Jesica Exposito, Jesus Marquez, Cecilia Jimenez-Mallebrera, Josep M. Porta, Andres Nascimento, Cristina Jou
Summary: We developed a method for quantifying dystrophin in DMD and BMD patients using spectral confocal microscopy. The proposed methodology correctly classified patients according to their diagnosis and automated ROI selection. Spectral imaging could be implemented to measure dystrophin expression and pave the way for detailed analysis of its relation to the clinical course. Further studies could be done to understand the expression of dystrophin-associated protein complexes (DAPCs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Katharine C. Simon, Paola Malerba, Neal Nakra, Amy Harrison, Sara C. Mednick, Marni Nagel
Summary: This study measured slow oscillations in Duchenne and Becker muscular dystrophy male patients and found a significant decline in slow oscillation density with age. When patients were grouped by age, a decline in the rate and amplitude of slow oscillations was observed.
Article
Neurosciences
Siyi Gan, Shulei Liu, Haiyan Yang, Liwen Wu
Summary: This study analyzed clinical data of 150 patients diagnosed with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in Hunan Children's Hospital, China. The study identified 150 small mutations, including 21 novel mutations. The analysis showed that positive family history, frameshift mutation, short duration of glucocorticoid (GC) treatment, and delayed GC treatment resulted in earlier loss of ambulation (LOA) for DMD patients. The findings provide important insights into the mutation spectrum of DMD/BMD and lay foundations for clinical trials.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Oncology
Nancy Alnassar, Malgorzata Borczyk, Georgia Tsagkogeorga, Michal Korostynski, Namshik Han, Dariusz C. Gorecki
Summary: Mutations in the DMD gene cause Duchenne muscular dystrophy (DMD), but recent research shows that reduced DMD expression is also associated with various malignancies. The downregulation of DMD in tumors is correlated with reduced patient survival and tumor stage. These findings challenge the current understanding of dystrophin expression and suggest a broader significance of the DMD gene beyond DMD.
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Clinical Neurology
Adriana P. Rebelo, Dimah Saade, Claudia V. Pereira, Amjad Farooq, Tyler C. Huff, Lisa Abreu, Carlos T. Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A. Schon, Stephan Zuchner, Michael E. Shy
Article
Clinical Neurology
Resham Ejaz, Shiyi Chen, Charles J. Isaacs, Amanda Carnevale, Judith Wilson, Kristen George, Martin B. Delatycki, Susan L. Perlman, Katherine D. Mathews, George R. Wilmot, J. Chad Hoyle, Sub H. Subramony, Theresa Zesiewicz, Jennifer M. Farmer, David R. Lynch, Grace Yoon
JOURNAL OF CHILD NEUROLOGY
(2018)
Article
Clinical Neurology
Maria G. Otero, Emmanuelle Tiongson, Frank Diaz, Katrina Haude, Karin Panzer, Ashley Collier, Jaemin Kim, David Adams, Cynthia J. Tifft, Hong Cui, Francisca Millian Zamora, Margaret G. Au, John M. Graham, David J. Buckley, Richard Lewis, Camilo Toro, Renkui Bai, Lesley Turner, Katherine D. Mathews, William Gahl, Tyler Mark Pierson
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2019)
Correction
Genetics & Heredity
Hernan D. Gonorazky, Sergey Naumenko, Arun K. Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A. Tarnopolsky, Katherine D. Mathews, Steven A. Moore, Andres N. Osorio, David Villanova, Dwi U. Kemaladewi, Ronald D. Cohn, Michael Brudno, James J. Dowling
AMERICAN JOURNAL OF HUMAN GENETICS
(2019)
Article
Genetics & Heredity
Christoph Bachmann, Faiza Noreen, Nicol C. Voermans, Primo L. Schaer, John Vissing, Johanna M. Fock, Saskia Bulk, Benno Kusters, Steven A. Moore, Alan H. Beggs, Katherine D. Mathews, Megan Meyer, Casie A. Genetti, Giovanni Meola, Rosanna Cardani, Emma Mathews, Heinz Jungbluth, Francesco Muntoni, Francesco Zorzato, Susan Treves
Article
Clinical Neurology
Autumn Rieken, Aaron D. Bossler, Katherine D. Mathews, Steven A. Moore
Summary: FSHD1 accounts for 94.5% of genetically confirmed cases of FSHD. The data show a continuum of D4Z4 repeat numbers with FSHD1 samples having the fewest, FSHD2 an intermediate number, and non-FSHD1,2 the most.
Article
Clinical Neurology
Eric M. Libell, Noelle C. Bowdler, Carrie M. Stephan, Miriam Bridget Zimmerman, Amber M. Gedlinske, Katherine D. Mathews
Summary: This study investigated the experiences and outcomes of pregnancy in women with LGMDR9, finding that most pregnancies were uncomplicated but may require assisted vaginal delivery and could lead to progression of weakness. More research on pregnancy in specific LGMD subtypes is needed to confirm these findings and determine if risks vary by genotype.
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
Lauren N. Coffey, Carrie M. Stephan, M. B. Zimmerman, Chyan K. Decker, Katherine D. Mathews
Summary: The diagnostic journey for individuals with FKRP mutations in a dystroglycanopathy natural history study was analyzed, revealing that chronic motor dysfunction was the most common initial symptom leading to diagnosis. Some cases were not diagnosed with muscular dystrophy until weakness became apparent. Awareness of disease presentation variability can aid in earlier diagnosis, which is crucial with treatments in development.
NEUROMUSCULAR DISORDERS
(2021)
Article
Pediatrics
Katherine D. Mathews, Kristin M. Conway, Amber M. Gedlinske, Nicholas Johnson, Natalie Street, Russell J. Butterfield, Man Hung, Emma Ciafaloni, Paul A. Romitti
Summary: This study analyzed clinical trial participation among DMD patients and found that fewer non-Hispanic blacks or Hispanics participated in trials compared to non-Hispanic whites, and trial participants tended to reside in counties with lower percentages of non-Hispanic blacks. Understanding these characteristics is important for identifying participation barriers and generalizing trial results.
Article
Clinical Neurology
Richard S. Finkel, Craig M. McDonald, H. Lee Sweeney, Erika Finanger, Erin Neil Knierbein, Kathryn R. Wagner, Katherine D. Mathews, Warren Marks, Jeffrey Statland, Jessica Nance, Hugh J. McMillan, Gary McCullagh, Cuixia Tian, Monique M. Ryan, Declan O'Rourke, Wolfgang Mueller-Felber, Mar Tulinius, W. Bryan Burnette, Cam-Tu Nguyen, Kayal Vijayakumar, Jessika Johannsen, Han C. Phan, Michelle Eagle, James MacDougall, Maria Mancini, Joanne M. Donovan
Summary: Edasalonexent did not show significant improvement in muscle function in DMD patients, but may slow disease progression in younger patients. Most patients tolerated the treatment well with mild adverse events primarily involving the gastrointestinal system.
JOURNAL OF NEUROMUSCULAR DISEASES
(2021)
Article
Clinical Neurology
Naomi Vather-Wu, Matthew D. Krasowski, Katherine D. Mathews, Amal Shibli-Rahhal
Summary: Patients with dystrophinopathies who maintain 25-hydroxyvitamin D levels >= 30 ng/mL on stable doses may only require 25-OHD monitoring every 2-2.5 years, as suggested by the study results.
JOURNAL OF NEUROMUSCULAR DISEASES
(2021)
Article
Genetics & Heredity
Maya Patel, Ashley McCormick, Jaclyn Tamaroff, Julia Dunn, Jonathan A. Mitchell, Kimberly Y. Lin, Jennifer Farmer, Christian Rummey, Susan L. Perlman, Martin B. Delatycki, George R. Wilmot, Katherine D. Mathews, Grace Yoon, Joseph Hoyle, Manuela Corti, S. H. Subramony, Theresa Zesiewicz, David Lynch, Shana E. McCormack
Summary: The study showed that clinical characteristics related to BMI and height in Friedreich ataxia (FRDA) vary among different age groups and sexes, with factors such as age, gender, and disease severity affecting outcomes. These insights will be valuable for assessing affected individuals in research and clinical settings.
NEUROLOGY-GENETICS
(2021)
Article
Clinical Neurology
Anna M. Reelfs, Carrie M. Stephan, Shelley R. H. Mockler, Katie M. Laubscher, M. Bridget Zimmerman, Katherine D. Mathews
Summary: This study found that pain is prevalent in individuals with limb-girdle muscular dystrophy (LGMD) R9, but its impact on daily living and correlation with fatigue remain unknown. Pain interference scores were near normal mean, while fatigue scores were elevated in adults. Pain interference and fatigue were positively correlated. These results suggest that pain in LGMDR9 patients is variable and episodic, with limited impact on daily life, while fatigue increases over time.
NEUROMUSCULAR DISORDERS
(2023)
Article
Genetics & Heredity
Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, James J. Dowling, Melissa A. Gibbons, Alison Ballard, Joanne S. Janas, Robert T. Leshner, Sandra Donkervoort, Carsten G. Bonnemann, Denise M. Malicki, Robert B. Weiss, Steven A. Moore, Katherine D. Mathews
NEUROLOGY-GENETICS
(2019)
