Pelizeaus Merzbacher disease - clinically and genetically verified bulgarian case
Keywords:
Pelizaeus Merzbacher disease, leukodystrophyes, myelin abnormalities, genetic tests, brain MRTAbstract
Pelzaeus-Merzbacher disease (PMD, Sudanophilic leukodystrophy) is a progressive, degenerative, genetic disease associated with a mutation in the proteolipid protein (PLP 1) gene - the basic structural protein of myelin. It is X-linked, which mainly affects boys with a varied clinical picture depending on the age of expression. A typical manifestation of the disease is early nystagmus, poor motor and intellectual development, and extensive hypomyelinization areas due to defective myelin synthesis. For accurate diagnosis, MRTs and genetic tests are important to distinguish this disease from those in the leukodystrophy group as they may have a similar course.
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