We previously found that the K141N mutation in heat shock protein B8 (HSPB8) was responsible for Charcot-Marie-Tooth disease type 2L in a large Chinese family. The objective of the present study was to generate a transgenic mouse model bearing the K141N mutation in the human HSPB8 gene, and to determine whether this (K141N)HSPB8 transgenic mouse model would manifest the clinical phenotype of Ch...

Paul Sollier (1861-1933) is perhaps the most unjustly forgotten follower of Jean-Martin Charcot. He studied with Désiré Bourneville, Charcot's second interne, and was considered by Léon Daudet as the cleverest collaborator of Charcot, along with Joseph Babinski. Charcot assigned him the task of summarizing the theories on memory, which led to two major books, in 1892 and 1900, that anticipated ...

BACKGROUND Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. OBJECTIVE We describe physical and histological fe...

FP AD Charcot foot (pied de Charcot) (CF), first described by JeanMartin Charcot in 1868, is caused by a wide variety of disorders that ultimately destroy the protective mechanisms of the small joints of the foot. Leprosy and diabetes are the most common causes of this form of destructive neuroarthropathy in the developing world. Although the prevalence of Charcot’s neuroarthropathy (CN) in dia...

Charcot foot neuropathic osteoarthropathy is a disorder affecting the soft tissues, joints, and bones of the foot and ankle. The disease is triggered in a susceptible individual through a process of uncontrolled inflammation leading to osteolysis, progressive fractures and articular malpositioning due to joint subluxations and dislocations. The progression of the chronic deformity with a collap...

Neuroarthropathy (neuropathic osteoarthropathy), also known as Charcot joint, is a condition characterized by a progressive articular surface destruction in the setting of impaired nociceptive and proprioceptive innervation of the involved joint. It is seen most commonly in the foot and ankle secondary to peripheral neuropathy associated with diabetes mellitus. Cases of hip (Charcot) neuroarthr...

QUESTION What is the effect of wearing splints at night to stretch the plantarflexors on dorsiflexion range of motion (ROM) in people with Charcot-Marie-Tooth disease? DESIGN Randomised, assessor-blinded, cross-over trial. PARTICIPANTS 14 people (1 dropout) aged 7 to 30 years with Charcot-Marie-Tooth disease Type 1A and with < or = 15 degrees dorsiflexion range of motion (ROM). INTERVENTI...

Georges Simenon's work, including his famous 'romans durs' novels and the forensic investigations carried out by his artistic creation, Inspector Maigret, bear many similarities to some of the diagnostic methods of the founders of Neurology, particularly Jean-Martin Charcot.

The locus for the X-borne type of Charcot-Marie-Tooth muscular atrophy is not close to the Xg locus and probably not within direct measurable distance of it.

Two patients are described with Charcot-Marie-Tooth disease and chronic peripheral neuropathy. Both had dyspnoea, orthopnoea, and evidence of severe diaphragm weakness. Expiratory muscle function was well preserved and abnormalities of gas exchange during sleep were only minor.