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

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Objective:

To characterize the clinical and genetic spectrum, as well as the natural history (disease progression over time) of BAG3-related neuromuscular disorders (NMDs) in Europe.

Key Findings:
  • 26 patients (65.4% males, 34.6% females) with BAG3-NMD were identified from 18 different families, with the recurrent c.626C>T p.(Pro209Leu) variant in 16 patients.
  • The p.(Pro209Leu) variant was associated with severe phenotypes, predominantly lower limb motor weakness and restrictive cardiomyopathy.
  • At last follow-up, 62.5% of patients with p.(Pro209Leu) lost ambulation, and 50% died prematurely, often from sudden death.
  • Other BAG3 variants resulted in milder disease courses, with all patients remaining ambulatory.
Interpretation:

The study delineates the severe clinical outcomes associated with the p.(Pro209Leu) variant, highlighting the need for tailored patient management and potential therapeutic strategies, which could inform future research.

Limitations:
  • The study is retrospective and relies on data from multiple centres, which may introduce variability and potential biases.
  • The sample size, while the largest to date, remains limited due to the rarity of BAG3-NMDs.
Conclusion:

This study provides crucial insights into the clinical spectrum and long-term outcomes of BAG3-related NMDs, emphasizing the severe implications of the p.(Pro209Leu) variant and its relevance in the context of existing literature.

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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