Proton MR spectroscopy in Pelizaeus-Merzbacher disease.
نویسندگان
چکیده
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.
منابع مشابه
Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination.
BACKGROUND Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive neurologic disorder caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The associated depletion of PLP and severe reduction of other major myelin proteins results in dysmyelination. MRI reveals loss of T1 contrast between gray and affected white matter and T2 hyperintensities of white matter d...
متن کاملProton MR spectroscopic imaging in Pelizaeus-Merzbacher disease.
BACKGROUND AND PURPOSE Pelizeaus-Merzbacher disease (PMD) is a clinically and molecularly heterogeneous disorder linked to deletion, mutations, or duplication of the proteolipid protein (PLP1) gene locus at Xq22. The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD. METHODS Three boys with PMD (one with the severe connatal form and two wi...
متن کاملMagnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestation...
متن کاملThe reflection of histology in MR imaging of Pelizaeus-Merzbacher disease.
Pelizaeus-Merzbacher disease is a rare disease of infants and young children in which there is an arrest of myelination of the CNS. The cause of the disorder is unknown. Three cases are reported, representing the connatal and classical forms of the disease. The MR images obtained of these children are compared with histologic findings as reported in the literature. In the connatal form a comple...
متن کاملNeurochemistry of Hypomyelination Investigated with MR Spectroscopy.
Proton magnetic resonance spectroscopy (MRS) allows the noninvasive exploration of tissue metabolism in vivo, providing neurophysiological and neurochemical information. N-acetylaspartate (NAA) is generally considered to be a marker of neurons and axons, and many neurodegenerative disorders, including demyelinating disorders, exhibit a decrease in total NAA (tNAA). MRS in human hypomyelination ...
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ورودعنوان ژورنال:
- AJNR. American journal of neuroradiology
دوره 18 3 شماره
صفحات -
تاریخ انتشار 1997