This is one of a series of occasional articles highlighting conditions that may be more common than many doctors realise or may be missed at first presentation. The series advisers are Anthony Harnden, university lecturer in general practice, Department of Primary Health Care, University of Oxford, and Richard Lehman, general practitioner, Banbury. To suggest a topic for this series, please ema...

BACKGROUND X-linked Charcot-Marie-Tooth type 1 disease has been associated with 280 mutations in the GJB1 [gap junction protein, beta 1, 32 kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)] gene. High-resolution melting analysis with an automated instrument can be used to scan DNA for alterations, but its use in X-linked disorders has not been described. METHODS A 96-well LightScan...

INTRODUCTION We present a case of a patient with a previously undescribed complication: intertrochanteric femoral neck insufficiency fracture after long-segment instrumented spinopelvic fusion to the ilium for Charcot spine. CASE PRESENTATION A 42-year-old Caucasian man with post-traumatic complete T6 paraplegia presented to our institution after developing Charcot spinal arthropathy at L3 an...

OBJECTIVE Charcot-Marie-Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta-1 gene (GJB1), is the second most common form of Charcot-Marie-Tooth disease (CMT). GJB1 encodes the GJ beta-1 protein (GJB1), which forms GJs within the myelin sheaths of peripheral nerves. The process by which GJB1 mutants cause neuropathy has not been fully elucidated. Th...

Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor neuropathy. We validated this diagnost...

BACKGROUND Transient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1. CASE PRESENTATION We describe a 15-year-old boy who presented transient and recurrent weakness of the limbs for 5 days. His mother, his mother's mother and his mother's sister presented pes cavus. MRI and electrophysiology were performed in the proband. Gap junction protein beta...

BACKGROUND Ankle arthrodesis may be achieved using the Ilizarov method. Comorbidities, such as diabetes, Charcot neuroarthropathy, osteomyelitis, leg length discrepancy, and smoking, can make an ankle fusion complex and may be associated with lower rates of healing. QUESTIONS/PURPOSES We asked if (1) smoking and other comorbidities led to lower fusion rates, (2) time wearing the frame affecte...

Gheorghe Marinescu (Georges Marinesco, in French) is a Romanian physician, founder of the School of Neurology in that country. He begins his medical studies in Bucharest, then has the opportunity to reach Paris and join the School of Neurology in La Salpêtrière Hospital, lead by Jean-Martin Charcot. This trip will forever imprint the mind of Marinescu, a great friend of France, a respectful stu...

The modern conceptualization of what we now call posttraumatic stress disorder (PTSD) originated with the European neurologists Jean-Martin Charcot and Hermann Oppenheim, who treated victims of railroad and industrial accidents in the late nineteenth century. Both Charcot and Oppenheim regarded the disorder as stemming from an acute fright or emotional shock. Charcot used the term “traumatic hy...