Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease
نویسندگان
چکیده
منابع مشابه
pelizaeus-merzbacher- disease (pmd) and pelizaeus-merzbacher-like disease (pmld)
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.
متن کاملPelizaeus-Merzbacher 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 ...
متن کاملPelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
The purpose of this article is to present contemporary information on the clinical and molecular diagnosis and the treatment of Pelizaeus-Merzbacher's disease (PMD) and related leukodystrophies. Various types of mutations of the X-linked proteolipid protein 1 gene (PLP1) that include copy number changes, point mutations, and insertions or deletions of a few bases lead to a clinical spectrum fro...
متن کاملPelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The most common mutation is gene duplication followed in frequency by missense mutations, insertions, and deletions. The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-link...
متن کاملPelizaeus-Merzbacher disease: Molecular diagnosis and therapy.
Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus-Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependa...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2019
ISSN: 1678-4227,0004-282X
DOI: 10.1590/0004-282x20190081