Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe - Takeaways - MDSpire

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

  • By

  • Gorka Fernández-Eulate

  • Cyril Gitiaux

  • Simone Thiele

  • Heinz Jungbluth

  • Anna Potulska-Chromik

  • Chiara Marini-Bettolo

  • Jean Baptiste Davion

  • Germán Morís

  • Eduard Gallardo

  • Montse Olivé

  • Carlos Pablo de Fuenmayor-Fernández de la Hoz

  • Frederique Audic

  • Arnaud Isapof

  • Maggie C Walter

  • Corrado Angelini

  • Enrico Bertini

  • Ulrike Schara-Schmidt

  • Kristl G Claeys

  • Maike F Dohrn

  • Mohamed Dembele

  • Frédéric Fer

  • Guy Brochier

  • Teresinha Evangelista

  • Anna Kostera-Pruszczyk

  • Shahram Attarian

  • Volker Straub

  • Cristina Domínguez-González

  • John Vissing

  • Pascale Richard

  • Corinne Metay

  • Diala Khraiche

  • Karim Wahbi

  • Tanya Stojkovic

  • June 10, 2025

  • 0 min

Share

  • 1

    BAG3 gene variants lead to severe neuromuscular disorders, including Charcot–Marie–Tooth disease and myofibrillar myopathy.

  • 2

    The recurrent c.626C>T p.(Pro209Leu) variant is linked to a severe phenotype, primarily affecting lower limb motor function and heart health.

  • 3

    At follow-up, 62.5% of patients with the p.(Pro209Leu) variant lost ambulation, and 50% experienced premature death, often from sudden cardiac events.

  • 4

    Other BAG3 variants resulted in milder disease courses, with patients remaining ambulatory and without significant cardiorespiratory issues.

  • 5

    This study represents the largest cohort of BAG3-related neuromuscular disorders, providing insights for patient management and future research.

Original Source(s)

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

  • by Gorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, Heinz Jungbluth, Anna Potulska-Chromik, Chiara Marini-Bettolo, Jean Baptiste Davion, Germán Morís, Eduard Gallardo, Montse Olivé, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Frederique Audic, Arnaud Isapof, Maggie C Walter, Corrado Angelini, Enrico Bertini, Ulrike Schara-Schmidt, Kristl G Claeys, Maike F Dohrn, Mohamed Dembele, Frédéric Fer, Guy Brochier, Teresinha Evangelista, Anna Kostera-Pruszczyk, Shahram Attarian, Volker Straub, Cristina Domínguez-González, John Vissing, Pascale Richard, Corinne Metay, Diala Khraiche, Karim Wahbi, Tanya Stojkovic

  • June 10, 2025

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