Proton MR spectroscopy may be of diagnostic value in metabolic and destructive disorders of the brain. In the connatal form of PMD, global lack of myelination may be relevant, as demonstrated by a significant Cho peak reduction.Conclusions. A significant decrease of the Cho-to-Cr ratio is also present. This alteration is well represented by quantitative analysis of the NAA-to-Cho ratio, which is the most important ratio affected.
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Our patients showed a markedly decreased peak of Cho. Proton MR spectroscopy was performed on two children with connatal PMD.Results. To determine if MR spectroscopy is useful in the diagnosis of the connatal form of PMD.Materials and methods. Three different forms of the disease have been identified based on their onset, progression and severity of myelin pathology indicated by MRI features.Objective. Autosomal recessive inheritance, particularly in the connatal form, cannot be excluded. Various point mutations or duplications in the PLP gene on the X chromosome are responsible for PMD in the majority of patients. Pelizaeus-Merzbacher disease ( PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and mental retardation. International Nuclear Information System (INIS) Proton MR spectroscopy in connatal Pelizaeus-Merzbacher disease Yet, as a relatively pure central nervous system hypomyelinating disorder, with limited involvement of the peripheral nervous system and little attendant neuronal pathology, PMD is an attractive therapeutic target for neural stem cell and glial progenitor cell transplantation, efforts at which are now underway in a number of centers internationally.
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A number of clinically similar Pelizaeus-Merzbacher-like disorders (PMLD) are considered in the differential diagnosis of PMD, the most prominent of which is PMLD-1, caused by misexpression of the GJC2 gene encoding connexin-47.
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These disorders may be associated with duplications, as well as with point, missense, and null mutations within the PLP1 gene. Two other less severe phenotypes were subsequently described, including the spastic paraplegia syndrome and PLP1-null disease. PMD has been classified into three major subtypes, according to the age of presentation: connatal PMD, classic PMD, and transitional PMD, combining features of both connatal and classic forms. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination associated with early neurologic dysfunction, progressive deterioration, and ultimately death. Pelizaeus-Merzbacher disease ( PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. Neurogenetics of Pelizaeus-Merzbacher disease.