{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T23:28:08Z","timestamp":1789687688172,"version":"4.0.1"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T00:00:00Z","timestamp":1581292800000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Karina Horsting-Wethly, Berendien Stoltenborg-Hogenkamp, and Doreen Fialho"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Brody disease is an autosomal recessive myopathy characterized by exercise-induced muscle stiffness due to mutations in the ATP2A1 gene. Almost 50 years after the initial case presentation, only 18 patients have been reported and many questions regarding the clinical phenotype and results of ancillary investigations remain unanswered, likely leading to incomplete recognition and consequently under-diagnosis. Additionally, little is known about the natural history of the disorder, genotype-phenotype correlations, and the effects of symptomatic treatment. We studied the largest cohort of Brody disease patients to date (n = 40), consisting of 22 new patients (19 novel mutations) and all 18 previously published patients. This observational study shows that the main feature of Brody disease is an exercise-induced muscle stiffness of the limbs, and often of the eyelids. Onset begins in childhood and there was no or only mild progression of symptoms over time. Four patients had episodes resembling malignant hyperthermia. The key finding at physical examination was delayed relaxation after repetitive contractions. Additionally, no atrophy was seen, muscle strength was generally preserved, and some patients had a remarkable athletic build. Symptomatic treatment was mostly ineffective or produced unacceptable side effects. EMG showed silent contractures in approximately half of the patients and no myotonia. Creatine kinase was normal or mildly elevated, and muscle biopsy showed mild myopathic changes with selective type II atrophy. Sarcoplasmic\/endoplasmic reticulum Ca2+ ATPase (SERCA) activity was reduced and western blot analysis showed decreased or absent SERCA1 protein. Based on this cohort, we conclude that Brody disease should be considered in cases of exercise-induced muscle stiffness. When physical examination shows delayed relaxation, and there are no myotonic discharges at electromyography, we recommend direct sequencing of the ATP2A1 gene or next generation sequencing with a myopathy panel. Aside from clinical features, SERCA activity measurement and SERCA1 western blot can assist in proving the pathogenicity of novel ATP2A1 mutations. Finally, patients with Brody disease may be at risk for malignant hyperthermia-like episodes, and therefore appropriate perioperative measures are recommended. This study will help improve understanding and recognition of Brody disease as a distinct myopathy in the broader field of calcium-related myopathies.<\/jats:p>","DOI":"10.1093\/brain\/awz410","type":"journal-article","created":{"date-parts":[[2019,12,15]],"date-time":"2019-12-15T20:06:57Z","timestamp":1576440417000},"page":"452-466","source":"Crossref","is-referenced-by-count":44,"title":["Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients"],"prefix":"10.1093","volume":"143","author":[{"given":"Joery P","family":"Molenaar","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie I","family":"Verhoeven","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Rodenburg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Translational Metabolic Laboratory, Radboud Center for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik J","family":"Kamsteeg","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrie E","family":"Erasmus","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Centre for Medical Neuroscience, Radboud University Medical Centre, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Savine","family":"Vicart","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence des Canalopathies Musculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires-Paris Est et Service de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Behin","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence des Canalopathies Musculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires-Paris Est et Service de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Bassez","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Centre de R\u00e9f\u00e9rence des Canalopathies Musculaires, Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires-Paris Est et Service de G\u00e9n\u00e9tique, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armelle","family":"Magot","sequence":"additional","affiliation":[{"name":"CHU Nantes, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires AOC, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"P\u00e9r\u00e9on","sequence":"additional","affiliation":[{"name":"CHU Nantes, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires AOC, Nantes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara W","family":"Brandom","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology, Children\u2019s Hospital, University of Pittsburgh, Pittsburgh, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Guglielmi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Vattemi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Chevessier","sequence":"additional","affiliation":[{"name":"CureVac AG, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Mathieu","sequence":"additional","affiliation":[{"name":"Neuromuscular Clinic, Centre de R\u00e9adaptation en D\u00e9ficience Physique de Jonqui\u00e8re, Jonqui\u00e8re, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Franques","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies neuromusculaires et de la SLA, h\u00f4pital La Timone, AP-HM, Aix-Marseille universit\u00e9, avenue Jean-Moulin, Marseille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Suetterlin","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael G","family":"Hanna","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Guyant-Marechal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rouen University Hospital, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc 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