Rigid spine syndrome associated with sensory‐motor axonal neuropathy resembling Charcot–Marie‐Tooth disease is characteristic of Bcl‐2‐associated athanogene‐3 gene mutations even without cardiac involvement |
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Authors: | Jean‐Baptiste Noury MD Thierry Maisonobe MD Pascale Richard MD Valérie Delague MD Edoardo Malfatti MD PhD Tanya Stojkovic MD |
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Institution: | 1. Service de Neurologie, H?pital de La Cavale Blanche, CHRU Brest, Brest, France;2. Centre de Référence de Pathologie Neuromusculaire Paris‐Est, Institut de Myologie, CHU La Pitié‐Salpêtrière, Assistance Publique‐H?pitaux 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‐H?pitaux de Paris, Paris, France;4. INSERM, UMR_S 910, Marseille, France |
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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 |
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Keywords: | axonal neuropathy myofibrillar myopathy BAG3 Charcot– Marie– Tooth disease CMT rigid spine syndrome |
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