Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease: Correlation with different genotypes

F. Pizzini; A. Fatemi; P. B. Barker; H. W. Moser; S. Naidu; A. Beltramello

doi:10.1177/197140090301600320

Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease: Correlation with different genotypes

F. Pizzini, A. Fatemi, P. B. Barker, H. W. Moser, S. Naidu, A. Beltramello

Research output: Contribution to journal › Article › peer-review

Abstract

We describe the MR spectroscopy findings in three patients with Pelizaeus-Merzbacker disease, a rare leukodystrophy associated with mutations of the PLP gene on chromosome X. The patients studied had different PLP gene mutations and presented different metabolic patterns, indicating a different phenotypic expression of mutations of the same gene.

Original language	English (US)
Pages (from-to)	449-450
Number of pages	2
Journal	Rivista di Neuroradiologia
Volume	16
Issue number	3
DOIs	https://doi.org/10.1177/197140090301600320
State	Published - Jun 2003

Keywords

1H-magnetic resonance imaging
Inherited white matter disorder
Leukodystrophy
Pelizaeus-Merzbacher disease

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging
Clinical Neurology

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10.1177/197140090301600320

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title = "Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease: Correlation with different genotypes",

abstract = "We describe the MR spectroscopy findings in three patients with Pelizaeus-Merzbacker disease, a rare leukodystrophy associated with mutations of the PLP gene on chromosome X. The patients studied had different PLP gene mutations and presented different metabolic patterns, indicating a different phenotypic expression of mutations of the same gene.",

keywords = "1H-magnetic resonance imaging, Inherited white matter disorder, Leukodystrophy, Pelizaeus-Merzbacher disease",

author = "F. Pizzini and A. Fatemi and Barker, {P. B.} and Moser, {H. W.} and S. Naidu and A. Beltramello",

year = "2003",

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AU - Fatemi, A.

AU - Barker, P. B.

AU - Moser, H. W.

AU - Naidu, S.

AU - Beltramello, A.

PY - 2003/6

Y1 - 2003/6

N2 - We describe the MR spectroscopy findings in three patients with Pelizaeus-Merzbacker disease, a rare leukodystrophy associated with mutations of the PLP gene on chromosome X. The patients studied had different PLP gene mutations and presented different metabolic patterns, indicating a different phenotypic expression of mutations of the same gene.

AB - We describe the MR spectroscopy findings in three patients with Pelizaeus-Merzbacker disease, a rare leukodystrophy associated with mutations of the PLP gene on chromosome X. The patients studied had different PLP gene mutations and presented different metabolic patterns, indicating a different phenotypic expression of mutations of the same gene.

KW - 1H-magnetic resonance imaging

KW - Inherited white matter disorder

KW - Leukodystrophy

KW - Pelizaeus-Merzbacher disease

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Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease: Correlation with different genotypes

Abstract

Keywords

ASJC Scopus subject areas

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