Pmd Case Studies

Satisfactory Essays
Case Study Strangely they has been a case where patients suffered from PMD phenotype of adult onset. The case involved two brothers who had a late onset of the disease at the ages of 29 and 42 years. They suffered the same chronic neurological symptoms including ataxia, dementia and tremor. The two brothers lived up to the ages of 45 and 61, and their post-mortem examinations showed very similar results to those expected from a person who suffered from PMD. The results showed hypomyelination in large parts of white matter, oligodendrites were numerically reduced, and immunhistochemistry showed that PLP reductions in affected white matter. Genetic study did not show any mutations or duplications of the PLP1 gene. It was concluded that "the
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