Brain atrophy in Pelizaeus-Merzbacher disease
نویسندگان
چکیده
منابع مشابه
Pelizaeus-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 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 (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-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 کاملProton MR spectroscopy in Pelizaeus-Merzbacher disease.
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.
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2016
ISSN: 0012-1622
DOI: 10.1111/dmcn.13077