نتایج جستجو برای: pelizaeus
تعداد نتایج: 366 فیلتر نتایج به سال:
how to cite this article: karimzadeh p. pelizaeus-merzbacher- disease (pmd) and pelizaeus-merzbacher-like disease (pmld). iran j child neurol autumn 2014;8:4 (suppl.1):9-10. pls see pdf.
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim of this study was to determine the possible role of magnetic resonance imaging pattern recognition in distinguishing different hypomyelinating disorders, which would facilitate the diagnostic process. Only patients with hypomyelination of known cause were included in ...
Proton MR spectroscopic findings in two patients with genetically defined Pelizaeus-Merzbacher disease revealed ratios of N-acetylaspartate/creatine and choline-containing compounds/creatine that were not significantly different from those found in a population of healthy subjects. These findings suggest that proton MR spectroscopy can aid in the diagnosis of Pelizaeus-Merzbacher disease.
Pelizaeus--Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. Mutations in the GJA12/GJC2 gene cause one form of autosomal recessive Pelizaeus--Merzbacher-like disease. Here, we report a new mutation in a -10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second ...
Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease
Pelizaeus-Merzbacher disease (PMD) is a rare and progressive condition affecting the central nervous system. [1] It is one of a group of gene-linked disorders known as the leukodystrophies, which are all characterised by myelin sheath abnormalities. This is due to a mutation in the gene that controls the production of a myelin protein called proteolipid protein 1 (PLP1). The exact type of PLP1 ...
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