{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T03:07:58Z","timestamp":1770692878796,"version":"3.49.0"},"reference-count":56,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2025,6,10]],"date-time":"2025-06-10T00:00:00Z","timestamp":1749513600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ERN EURO-NMD"},{"DOI":"10.13039\/501100000780","name":"European Union","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013272","name":"Third Health Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>De novo or autosomal dominant BAG3 gene variants cause a wide range of skeletal and cardiac muscle diseases encompassing Charcot\u2013Marie\u2013Tooth disease, myofibrillar myopathy, cardiomyopathy or a combination of them. Given the severity and rarity of BAG3-neuromuscular diseases (NMDs), series of patients are lacking. Our aim was to characterize the clinical and genetic spectrum, in addition to the natural history of BAG3-NMDs in Europe.<\/jats:p>\n                  <jats:p>In this multicentre retrospective study, we collected clinical, ancillary and genetic data of patients with NMD and BAG3 variants, identified from European paediatric and adult neuromuscular reference centres from May to December 2023 following a call circulated through the European Reference Network EURO-NMD and other partners. Responses were received from 35 centres in 17 countries. Twenty-six patients (65.4% males, 34.6% females) with BAG3-NMD from 18 different families were included in the study. The c.626C&amp;gt;T p.(Pro209Leu) variant, carried by 16 patients, was the only recurrent variant and was associated with a homogeneous and severe phenotype, with predominantly lower limb motor weakness (n = 13, 81.25%) or heart failure (n = 3, 18.75%) as the presenting feature and with a mean age at symptom onset of 7.8 \u00b1 3.4 years. Where available (n = 13), electroneuromyography showed a polyneuropathy with demyelinating features and a frequently associated myopathy. Eleven (68.8%) patients had restrictive cardiomyopathy on initial assessment. Orthopaedic manifestations were common, with contractures (n = 15, 93.8%), foot deformities (n = 11, 84.6%) and scoliosis and\/or rigid spine (n = 12, 80%). At last follow-up (age 21.5 \u00b1 8.6 years) of the patients carrying the p.(Pro209Leu) variant, 10 (62.5%) had lost ambulation, 14 (93.3%) had respiratory insufficiency (11 requiring ventilation) and 12 (75%) had a restrictive cardiomyopathy, leading to heart failure and heart transplantation in five and four patients, respectively. Eight (50%) patients died prematurely at a mean age of 22.5 \u00b1 9.6 years, most frequently from sudden death (n = 5). The other 10 patients carried three other BAG3 variants and showed a milder disease course, with all patients remaining ambulatory, without cardiorespiratory manifestations at last follow-up. The p.(Arg309*) nonsense variant, known to cause isolated dilated cardiomyopathy, and the p.(Val505Glyfs*6) frameshift variant, resulting in a premature stop codon, caused distal hereditary motor neuropathy.<\/jats:p>\n                  <jats:p>This is the largest study of patients with BAG3-NMD, delineating the frequency, specific presentation and natural history in patients with the recurrent BAG3 p.(Pro209Leu) missense variant, crucial for informing patient management in the context of a rapidly progressive disease. All other BAG3 variants were rare and caused milder clinical presentations.<\/jats:p>","DOI":"10.1093\/brain\/awaf223","type":"journal-article","created":{"date-parts":[[2025,6,7]],"date-time":"2025-06-07T07:44:09Z","timestamp":1749282249000},"page":"4435-4447","source":"Crossref","is-referenced-by-count":1,"title":["Disease spectrum and long-term prognosis of patients with\n                    <i>BAG3<\/i>\n                    -associated neuromuscular diseases in Europe"],"prefix":"10.1093","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1112-7464","authenticated-orcid":false,"given":"Gorka","family":"Fern\u00e1ndez-Eulate","sequence":"first","affiliation":[{"name":"Nord\/Est\/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, APHP , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Gitiaux","sequence":"additional","affiliation":[{"name":"Clinical Neurophysiology Unit, Neuromuscular Diseases Reference Centre, Necker Enfants Malades Hospital, APHP , Paris 75015 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"Thiele","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich , Munich D-80336 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Neuromuscular Service, Evelina\u2019s Children Hospital, Guy\u2019s & St. Thomas\u2019 Hospital NHS Foundation Trust , London SE1 7EH ,","place":["UK"]},{"name":"Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King\u2019s College London , London SE1 9RT ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Potulska-Chromik","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw , Warsaw 02-019 ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle-upon-Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Baptiste","family":"Davion","sequence":"additional","affiliation":[{"name":"Reference Centre for Neuromuscular Diseases Nord\/Est\/Ile-de-France, CHU Lille , Lille 59000 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Germ\u00e1n","family":"Mor\u00eds","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Diseases Unit, Hospital Universitario Central de Asturias , Oviedo 33011 ,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduard","family":"Gallardo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau , Barcelona 08041 ,","place":["Spain"]},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER) , Madrid 28029 ,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Montse","family":"Oliv\u00e9","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Diseases Unit, Institut de Recerca Hospital de la Santa Creu i Sant Pau , Barcelona 08041 ,","place":["Spain"]},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER) , Madrid 28029 ,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Pablo","family":"de Fuenmayor-Fern\u00e1ndez de la Hoz","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28041 ,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frederique","family":"Audic","sequence":"additional","affiliation":[{"name":"Neuropaediatric Department, Neuromuscular Diseases Reference Centre PACARARE, Timone Children\u2019s Hospital, APHM , Marseille 13005 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnaud","family":"Isapof","sequence":"additional","affiliation":[{"name":"Neuropaediatric Department, Neuromuscular Diseases Reference Centre, Armand Trousseau Hospital, APHP , Paris 75012 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maggie C","family":"Walter","sequence":"additional","affiliation":[{"name":"Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, LMU Munich , Munich D-80336 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9554-8794","authenticated-orcid":false,"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of Padua , Padua 35128 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9276-4590","authenticated-orcid":false,"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children\u2019s Research Hospital, IRCCS , Rome 00146 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Centre for Translational Neuro- and Behavioural Sciences, University of Duisburg-Essen , Essen D-45147 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9937-443X","authenticated-orcid":false,"given":"Kristl G","family":"Claeys","sequence":"additional","affiliation":[{"name":"Department of Neurology, University Hospitals Leuven , Leuven 3000 ,","place":["Belgium"]},{"name":"Department of Neurosciences, Laboratory for Muscle Diseases and Neuropathies, KU Leuven and Leuven Brain Institute (LBI) , Leuven 3000 ,","place":["Belgium"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5320-9807","authenticated-orcid":false,"given":"Maike F","family":"Dohrn","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty of the RWTH Aachen University, Uniklinik Aachen , Aachen 52074 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Dembele","sequence":"additional","affiliation":[{"name":"AFM-T\u00e9l\u00e9thon , \u00c9vry-Courcouronnes 91002 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Fer","sequence":"additional","affiliation":[{"name":"MYOdata Plateforme, Myology Institute , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Brochier","sequence":"additional","affiliation":[{"name":"Neuromuscular Morphology Unit, Myology Institute, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Nord\/Est\/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, APHP , Paris 75013 ,","place":["France"]},{"name":"Neuromuscular Morphology Unit, Myology Institute, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw , Warsaw 02-019 ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases and ALS Reference Centre, FILNEMUS, CHU La Timone, APHM , Marseille 13005 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust , Newcastle-upon-Tyne NE1 3BZ ,","place":["UK"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Dom\u00ednguez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neuromuscular Unit, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III , Madrid 28041 ,","place":["Spain"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Centre, Rigshospitalet Copenhagen University Hospital , Copenhagen DK-2100 ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"APHP, DMU BioGeMH-Sorbonne Universit\u00e9, Functional Unit of Molecular and Cellular Cardiogenetics and Myogenetics, Genetic Center of Piti\u00e9-Salp\u00eatri\u00e8re, INSERM UMRS 1166, Piti\u00e9-Salp\u00eatri\u00e8re Hospital , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Metay","sequence":"additional","affiliation":[{"name":"Molecular and Cellular Cardiogenetics and Myogenetics Functional Unit, INSERM UMRS 974, Myology Institute, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP, Sorbonne Universit\u00e9 , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diala","family":"Khraiche","sequence":"additional","affiliation":[{"name":"Paediatric Cardiology Department, Necker-Enfants Malades Hospital, APHP , Paris 75015 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7682-7387","authenticated-orcid":false,"given":"Karim","family":"Wahbi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Imagine, Paris Cardiomyopathy Center Associated Laboratory , Paris 75015 ,","place":["France"]},{"name":"APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de R\u00e9f\u00e9rence des maladies Neuromusculaires Nord-Est-Ile de France, Paris Cit\u00e9 Universit\u00e9 , Paris 75006 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Nord\/Est\/Ile-de-France Neuromuscular Diseases Reference Centre, Department of Neuro-Myology, Myology Institute, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, APHP , Paris 75013 ,","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,6,10]]},"reference":[{"key":"2025120417091714400_awaf223-B1","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1074\/jbc.274.2.781","article-title":"An evolutionarily conserved family of Hsp70\/Hsc70 molecular chaperone regulators","volume":"274","author":"Takayama","year":"1999","journal-title":"J Biol Chem"},{"key":"2025120417091714400_awaf223-B2","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1161\/CIRCRESAHA.110.225649","article-title":"BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress","volume":"107","author":"Hishiya","year":"2010","journal-title":"Circ Res"},{"key":"2025120417091714400_awaf223-B3","doi-asserted-by":"crossref","first-page":"8755","DOI":"10.1038\/s41598-020-65664-z","article-title":"BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes","volume":"10","author":"Adriaenssens","year":"2020","journal-title":"Sci Rep"},{"key":"2025120417091714400_awaf223-B4","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1080\/15548627.2015.1017186","article-title":"Induction and adaptation of chaperone-assisted selective autophagy CASA in response to resistance exercise in human skeletal muscle","volume":"11","author":"Ulbricht","year":"2015","journal-title":"Autophagy"},{"key":"2025120417091714400_awaf223-B5","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1016\/j.jacc.2018.08.2181","article-title":"Dilated cardiomyopathy due to BLC2-associated athanogene 3 (BAG3) mutations","volume":"72","author":"Dom\u00ednguez","year":"2018","journal-title":"J Am Coll Cardiol"},{"key":"2025120417091714400_awaf223-B6","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ana.21553","article-title":"Mutation in BAG3 causes severe dominant childhood muscular dystrophy","volume":"65","author":"Selcen","year":"2009","journal-title":"Ann Neurol"},{"key":"2025120417091714400_awaf223-B7","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1136\/jnnp-2017-315929","article-title":"Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease","volume":"89","author":"Shy","year":"2018","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025120417091714400_awaf223-B8","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1007\/s00415-023-12039-9","article-title":"Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3","volume":"271","author":"de Fuenmayor-Fern\u00e1ndez de la Hoz","year":"2024","journal-title":"J Neurol"},{"key":"2025120417091714400_awaf223-B9","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1007\/s00401-014-1344-5","article-title":"Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 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