Dejerine-Sottas

The importance of P0 in PNS myelin has been clearly demonstrated. In P0 gene knockout experiments in mice [40], severe hypomyelination and a virtual absence of compact myelin in the PNS is observed. In humans, there are two disease states associated with mutations in the P0 gene Charcot-Marie-Tooth type I disease (see Ch. 38) and Dejerine-Sottas disease, both dysmyelinating diseases that exhibit a spectrum of severity depending on the particular mutation. 

Other mutations of this gene cause severe neuropathies of infancy (Dejerine-Sottas disease), and still others lead to disability with a late onset (Shy et al., 2004). MPZ mutations disrupt the tertiary structure of PO protein, interfering with PO-mediated adhesion during myelination and with myelin compaction. In contrast, late onset neuropathies result from mutations that allow myelination but chronically disrupt Schwann cell-axonal interactions. A genotype/phenotype correlation is clear even though penetrance can vary within single families. 

DSS Dejerine-Sottas syndrome FT-ICR fourier hansformed ion cyclohon... 

The similarity between HAP and more common neurologic disorders (Friedreich s ataxia, Dejerine-Sottas disease etc., Greenfield 1958) suggest that among such patients a number of unrecognized cases of HAP may be found. On the other hand, atypical cases have been reported as HAP (Olesen 1957, Ravin and Schwartz 1962) which could be classified with certainty only by chemical analyses. 

Under the microscope perineurium and endoneurium are thickened. Typically (Dereux 1963) but not always (Veltema and Verjaal 1961) the appearance resembles that of hypertrophic polyneuritis, type Dejerine-Sottas (Edstrom et al. 1959). Microscopic lesions vary in intensity in different sections, and are most marked where the tissue appears edematous on gross examination. Here, the axis cylinders are diminished in number and are separated by an amorphous material which stains metachromatic with cresyl violet, toluidin blue and PAS (Cammermeyer 1956). The accumulation of serous fluid which apparently is responsible for the swelling (Gordon and Hudson 1959, Alexander 1966) may be limited to peripheral bundles, and the metachromatic material may become less or may... 

It is somewhat difficult to be sure of the precise diagnostic criteria included in some published reports, but since some at least of the reported conditions are genetically determined, it is reasonable to assume that they may be the clinical expression of inborn metabolic errors, as in Refsum s disease. There have been at least two reports describing abnormalities of pyruvate metabolism in Dejerine-Sottas disease [143, 144]. The latter authors concluded that at least in some of their patients abnormal pyruvate tolerance was secondary to dietary thiamine deficiency. 

Greenfield, J. G. Diseases of the lower motor and sensory neurones (peripheral neuritis and neuropathy) in hypertrophic interstitial neuropathy of Dejerine and Sottas (heredopathia atactica polyneuritiformis Refsum). In Neuropathology. Ed. Arnold, p. 607. London 1958. 

Although the names of Dejerine and Sottas are linked in a clinically and pathologically well-defined genetically determined disease in which hypertrophic interstitid neuropathy is an... 

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