F rom October 1885 until February 1886, Sigmund Freud (1856-1939) visited Paris to work with Jean-Martin Charcot (1825-1893) at the Salpêtrière. His original plan was to continue his neuropathologic studies. During the first months of his stay in Paris, he was disappointed and considered returning to Vienna. His feelings changed after personally meeting Charcot, to whom he proposed translating ...

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy with a genetic locus on chromosome 17p11.2. The majority of patients carry a duplicated DNA segment that encompasses the gene PMP22, which encodes a peripheral myelin protein. PMP22 is the crucial gene involved in the pathogenesis of CMT1A. Molecular diagnosis of CMT1A requires detection of this duplicated segment...

Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebe...

Operative charts were reviewed in 86 patients with Charcot-Marie-Tooth disease, a condition characterized by chronic muscular denervation. A total of 161 surgical procedures was performed. Major complications were few, and only one operative death occurred, unrelated to anaesthesia. Succinylcholine and malignant hyperthermia triggering agents were used in 41 (48%) and 77 (90%) patients, respect...

Point mutations in "myelin genes" result in a spectrum of inherited demyelinating neuropathies. The understanding of the pathomechanisms by which these mutations produce phenotypes remains limited. In this issue of Neuron, Wrabetz and colleagues report that the unfolded protein response (UPR) is responsible for demyelination in a Charcot-Marie-Tooth disease type 1B (CMT1B) mouse model. Deletion...

The X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32), which is expressed in Schwann cells. We have compared the functional properties of 11 Cx32 mutations with those of the wild-type protein by testing their ability to form intercellular channels in the paired oocyte expression system. Although seven mutations were functiona...

A doença de Charcot-Marie-Tooth (CMT) é uma polineuropatia motora, sensitiva, hereditária e predomínio distal. Os membros inferiores são os mais afetados e, ocasionalmente, há comprometimento dos superiores. Este estudo descreve a presença disfagia orofaríngea intervenção fonoaudiológica em paciente 58 anos com diagnóstico CMT, encaminhada à avaliação devido queixas na deglutição. Na inicial id...

A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of th...

Ten patients with Charcot-Marie-Tooth disease have been reviewed at an average of 14 years after soft tissue procedures to correct foot deformities. No patient has so far required triple arthrodesis and the overall results as regards function, appearance and symptoms are satisfactory in all patients. It is concluded that soft tissue procedures can certainly postpone the need for triple arthrode...