Jean-Baptiste Noury1, Thierry Maisonobe2, Pascale Richard3, Valérie Delague4, Edoardo Malfatti2, Tanya Stojkovic2. 1. Service de Neurologie, Hôpital de La Cavale Blanche, CHRU Brest, Boulevard Tanguy Prigent, 29609, Brest, France. 2. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. 3. UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Equipe "Génomique et Physiopathologie des Maladies Cardiovasculaires", Institute of Cardiometabolism and Nutrition, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. 4. INSERM, UMR_S 910, 13385, Marseille, France.
Abstract
INTRODUCTION: Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT). RESULTS: Muscle MRI showed severe fat infiltration without any specific pattern. Deltoid muscle biopsy showed neurogenic changes and discrete myofibrillar abnormalities. Electrocardiogram and transthoracic echocardiography results were normal. Genetic analysis of a panel of 45 CMT genes showed no mutation. BAG3 gene screening identified the previously reported c.626C>T, pPro209Leu, mutation. DISCUSSION: This case indicates that rigid spine syndrome and sensory-motor axonal neuropathy are key clinical features of BAG3 mutations that should be considered even without cardiac involvement. Muscle Nerve, 57: 330-334, 2018.
INTRODUCTION:Bcl-2-associated athanogene-3 (BAG3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT). RESULTS: Muscle MRI showed severe fat infiltration without any specific pattern. Deltoid muscle biopsy showed neurogenic changes and discrete myofibrillar abnormalities. Electrocardiogram and transthoracic echocardiography results were normal. Genetic analysis of a panel of 45 CMT genes showed no mutation. BAG3 gene screening identified the previously reported c.626C>T, pPro209Leu, mutation. DISCUSSION: This case indicates that rigid spine syndrome and sensory-motor axonal neuropathy are key clinical features of BAG3 mutations that should be considered even without cardiac involvement. Muscle Nerve, 57: 330-334, 2018.