PubMed · 7397774
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C B Mamvura. 1980. Werdnig-Hoffmann disease.. https://pubmed.ncbi.nlm.nih.gov/7397774/
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Congenital hypomyelination (CH) is a hereditary demyelinating peripheral neuropathy characterized by early infancy onset, distal muscle weakness, hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the present report, the clinical, morphological, and immunohistochemical features of a CH case and the identification of a mutation in the gene (MPZ) for protein zero (P0) associated with this phenotype are described. This "de novo" mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot-Marie-Tooth type 1B disease (CMT1B) or Dejerine-Sottas syndrome (DSS) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile.
Multiple sclerosis was at one time viewed as a spiritual (God-given) disorder; only much later was it recognized as a scarring process. With advancing scientific knowledge, it was seen as a primarily demyelinating disease, later as thromboembolic in origin, and finally as inflammatory and destructive, probably an immunologic response to exogenous (infectious) agents or to one or more autoantigens. The pathogenesis of lesions was first ascribed to antibody, later to inflammatory cells, acting via a panoply of mediators, such as cytokines, adhesion molecules, chemokines, and complement components. It is now recognized as a complex disorder, in which many genetically controlled elements interact. Research on model diseases in experimental animals, both autoimmune and initiated by viral infection, has guided research on MS and similar demyelinating disorders of the CNS and PNS.