Pelizaeusmerzbacher disease synonyms, pelizaeusmerzbacher disease pronunciation, pelizaeusmerzbacher disease translation, english dictionary definition of pelizaeusmerzbacher disease. If you have problems viewing pdf files, download the latest version of adobe reader. Traditionally pelizaeusmerzbacher disease has divided into two subtypes. Pelizaeus merzbacher disease is characterized by abnormal myelin formation. Clinical and mutational spectrum of colombian patients with. Pelizaeusmerzbacher disease is an xlinked neurological disorder that damages oligodendrocytes in the central nervous system. Pelizaeusmerzbacher disease, pelizaeus merzbacherlike. This gene provides instructions for producing proteolipid protein 1 and a modified version isoform of proteolipid protein 1, called dm20. There is a history of pelizaeusmerzbacher disease in my family. The molecular and cellular defects underlying pelizaeusmerzbacher disease. Pelizaeusmerzbacher disease genetic and rare diseases. Article information, pdf download for pelizaeusmerzbacher disease.
Together, pelizaeus and merzbacher identified the xlinked inheritance, the neonatal features, and the hypomyelination of the central. Clinical features deviating from the usual pattern included. Leukodystrophies are conditions that involve abnormalities of the nervous systems white matter, which consists of nerve fibers covered by a fatty substance called myelin. The clinical and neuropathological findings are reported of two sibs with adult type pmd. Pelizaeusmerzbacher disease genetics home reference nih. Pelizaeusmerzbacher disease is caused by mutations in the plp1 gene. Pelizaeusmerzbacher disease is the result of abnormalities of the proteolipidprotein plp1 gene locus at xq22. Pdf proton mr spectroscopy in pelizaeusmerzbacher disease. This can be either a mutation, deletion or duplication most common 4. Pelizaeusmerzbacher disease radiology reference article.
Clinical presentation patients may present with pendular eye movements hypotonia pyramidal disease pathology gene. Pdf expanded spectrum of pelizaeusmerzbacherlike disease. Pelizaeusmerzbacher disease is an inherited condition involving the brain and spinal cord central nervous system that primarily affects males. Pelizaeusmerzbacher disease hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has material basis in mutation in the plp1 gene on chromosome xq22. Pelizaeusmerzbacher disease and spastic paraplegia 2. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Pelizaeusmerzbacher disease and the allelic disorder spastic paraplegia 2 spg2 are hereditary leukodystrophies caused by mutations of the. Proteolipid protein 1 and dm20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers.
Pelizaeusmerzbacher disease pmd is an xlinked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable. The code is valid for the year 2020 for the submission of hipaacovered transactions. For language access assistance, contact the ncats public information officer. Pelizaeusmerzbacher disease can be diagnosed on genetic and clinical criteria. A novel plp mutation in a japanese patient with mild pelizaeusmerzbacher disease. In 1885, friedrich pelizaeus first identified a genetic disorder causing spasticity and developmental delay. Proton mr spectroscopic imaging in pelizaeusmerzbacher. I would like to learn more about this condition, including its causes, symptoms, treatment and. Education exhibit continuing medical educationfree access.
Pelizaeusmerzbacher disease genetic and rare diseases nih. This disease is one of a group of genetic disorders called leukodystrophies. Pelizaeusmerzbacher disease is an xlinked recessive hypomyelinative leukodystrophy hld1 in which myelin is not formed properly in the central nervous. Pelizaeus merzbacher disease pmd is an xlinked leukodystrophy which is characterized by an arrest in myelin development. Pelizaeus merzbacher disease is an inherited condition involving the brain and spinal cord central nervous system that primarily affects males.
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