BAG3 mutations: Another cause of giant axonal neuropathy

Fatima Jaffer, Sinéad M. Murphy, Mariacristina Scoto, Estelle Healy, Alexander M. Rossor, Sebastian Brandner, Rahul Phadke, Duygu Selcen, Heinz Jungbluth, Francesco Muntoni, Mary M. Reilly

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


Mutations in Bcl-2 associated athanogene-3 (BAG3) are a rare cause of myofibrillar myopathy, characterised by rapidly progressive proximal and axial myopathy, cardiomyopathy and respiratory compromise. Neuropathy has been documented neurophysiologically in previously reported cases ofBAG3-associated myofibrillarmyopathy and in some cases giant axons were observed on nerve biopsies; however, neuropathy was not thought to be a dominant feature of the disease. In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease. Here, we describe four patients with heterozygous BAG3 mutations with clinical evidence of a sensorimotor neuropathy, with predominantly axonal features on neurophysiology. Three patients presented with a significant neuropathy. Muscle magnetic resonance imaging (MRI) in one patient revealed mild to moderate atrophy without prominent selectivity. Examination of sural nerve biopsies in two patients demonstrated giant axons. This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature.

Original languageEnglish (US)
Pages (from-to)210-216
Number of pages7
JournalJournal of the Peripheral Nervous System
Issue number2
StatePublished - Jun 2012


  • BAG3
  • Bcl-2 associated athanogene
  • Charcot-Marie-Tooth disease
  • Giant axons
  • Myofibrillar myopathy

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Neurology


Dive into the research topics of 'BAG3 mutations: Another cause of giant axonal neuropathy'. Together they form a unique fingerprint.

Cite this