The purpose of this study was to assess the influence of an experimentally induced light premature occlusal contact on tooth sensation. This assessment involved monitoring the electric tooth pain threshold (TPT) at multiple times before and after altering the occlusal contact. This alteration was produced by placing high inlays, which were measured with a custom made measuring device in maximum...

A family is described in which 16 individuals in 3 generations have Charcot-Marie-Tooth disease. At least 6 family members also have the naevoid basal cell carcinoma syndrome. In addition, 1 subject with both disorders has 2 young daughters with the naevoid basal cell carcinoma syndrome.

Introduction Charcot-Marie-Tooth disease (CMT) is the most common genetic nerve disorder. The most prevalent form, CMT1A, is characterised by demyelinating neuropathy with progressive foot and ankle weakness, contractures and deformity. The wide range of foot/ankle manifestations in CMT1A complicates the assessment, diagnosis and therapy. We aimed to characterise foot and ankle strength, flexib...

Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A.

Skin fibroblasts from patients with familial dysautonomia, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease show normal sensitivity to ionising radiation, as measured by post-irradiation clonal growth. Previous reports of cellular hypersensitivity to ionising radiation and other DNA-damaging agents in familial dysautonomia and Duchenne muscular dystrophy have not been confirmed.

Mutations in mitofusin 2 (MFN2), a dynamin-like GTPase required for mitochondrial fusion, cause the peripheral neuropathy Charcot-Marie-Tooth type 2A. In a recent report in Nature, de Brito and Scorrano (2008) demonstrate a new function of MFN2-tethering the endoplasmic reticulum and mitochondria to control the efficiency of mitochondrial uptake of Ca2+ ions.

A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.