title: 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.
abstract: 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.
  
  
  
  We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT).
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Service de Neurologie, Hôpital de La Cavale Blanche, CHRU Brest, Boulevard Tanguy Prigent, 29609, Brest, France.
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Noury
authors.affiliation: Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Maisonobe
authors.affiliation: 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.
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.affiliation: INSERM, UMR_S 910, 13385, Marseille, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Delague
authors.affiliation: Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D004568:Electrodiagnosis; D005260:Female; D006331:Heart Diseases / Q000150:complications; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D059609:Mallory Bodies / Q000235:genetics / Q000473:pathology*; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D012600:Scoliosis / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; C414431:BAG3 protein, human
keywords: BAG3; CMT; Charcot-Marie-Tooth disease; axonal neuropathy myofibrillar myopathy; rigid spine syndrome