期刊
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
卷 17, 期 2, 页码 210-216出版社
WILEY
DOI: 10.1111/j.1529-8027.2012.00409.x
关键词
BAG3; Bcl-2 associated athanogene; Charcot-Marie-Tooth disease; giant axons; myofibrillar myopathy
资金
- Medical Research Council (MRC)
- NINDS/ORD [1U54NS065712-01]
- Department of Health's National Institute for Health Research Biomedical Research Centres
- Muscular Dystrophy Campaign
- Great Ormond Street Children's Charity
- Medical Research Council [G0601943] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
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 of BAG3-associated myofibrillar myopathy 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.
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