The "S" in MELAS

Lisa Silbert; André Durocher; José Biller

doi:10.1016/S1052-3057(96)80005-X

The "S" in MELAS

Lisa Silbert, André Durocher, José Biller

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

3 Scopus citations

Abstract

MELAS syndrome is one of several mitochondrial-inherited encephalomyopathies distinguished from the others by its unique stroke-like episodes. A case is presented that illustrates the importance of acknowledging the heteroplasmic nature of this disease when making its diagnosis. The mitochondrial DNA (mtDNA) point mutation characteristic of MELAS was eventually detected by analysis of a muscle biopsy specimen after initial studies of a serum sample were negative for the same genetic defect. Other diagnostic features of MELAS syndrome are described; these include characteristic computed tomography (CT), magnetic resonance imaging (MRI), angiography, single photon emission computed tomography using N-isopropyl-p-[123-I]-Iodoamphetamine (IMP-SPECT), and pathological findings. Finally, various theories regarding the etiology of stroke in MELAS syndrome as well as available treatment options are discussed.

Original language	English (US)
Pages (from-to)	67-71
Number of pages	5
Journal	Journal of Stroke and Cerebrovascular Diseases
Volume	6
Issue number	2
DOIs	https://doi.org/10.1016/S1052-3057(96)80005-X
State	Published - Nov 1996
Externally published	Yes

Keywords

Diagnostic imaging
Genetic testing
MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes)
Stroke

ASJC Scopus subject areas

Surgery
Rehabilitation
Clinical Neurology
Cardiology and Cardiovascular Medicine

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10.1016/S1052-3057(96)80005-X

Cite this

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AU - Durocher, André

AU - Biller, José

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The "S" in MELAS

Abstract

Keywords

ASJC Scopus subject areas

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