The "S" in MELAS

Lisa Silbert, André Durocher, José Biller

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)67-71
Number of pages5
JournalJournal of Stroke and Cerebrovascular Diseases
Volume6
Issue number2
DOIs
StatePublished - Nov 1996
Externally publishedYes

Fingerprint

MELAS Syndrome
Single-Photon Emission-Computed Tomography
Stroke
Mitochondrial Encephalomyopathies
Inosine Monophosphate
Magnetic Resonance Angiography
Mitochondrial DNA
Point Mutation
Tomography
Magnetic Resonance Imaging
Biopsy
Muscles
Serum

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery
  • Rehabilitation
  • Cardiology and Cardiovascular Medicine

Cite this

The "S" in MELAS. / Silbert, Lisa; Durocher, André; Biller, José.

In: Journal of Stroke and Cerebrovascular Diseases, Vol. 6, No. 2, 11.1996, p. 67-71.

Research output: Contribution to journalArticle

Silbert, Lisa ; Durocher, André ; Biller, José. / The "S" in MELAS. In: Journal of Stroke and Cerebrovascular Diseases. 1996 ; Vol. 6, No. 2. pp. 67-71.
@article{1f327886180c4802a5b57566d0485668,
title = "The {"}S{"} in MELAS",
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.",
keywords = "Diagnostic imaging, Genetic testing, MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes), Stroke",
author = "Lisa Silbert and Andr{\'e} Durocher and Jos{\'e} Biller",
year = "1996",
month = "11",
doi = "10.1016/S1052-3057(96)80005-X",
language = "English (US)",
volume = "6",
pages = "67--71",
journal = "Journal of Stroke and Cerebrovascular Diseases",
issn = "1052-3057",
publisher = "W.B. Saunders Ltd",
number = "2",

}

TY - JOUR

T1 - The "S" in MELAS

AU - Silbert, Lisa

AU - Durocher, André

AU - Biller, José

PY - 1996/11

Y1 - 1996/11

N2 - 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.

AB - 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.

KW - Diagnostic imaging

KW - Genetic testing

KW - MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes)

KW - Stroke

UR - http://www.scopus.com/inward/record.url?scp=0345546238&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0345546238&partnerID=8YFLogxK

U2 - 10.1016/S1052-3057(96)80005-X

DO - 10.1016/S1052-3057(96)80005-X

M3 - Article

VL - 6

SP - 67

EP - 71

JO - Journal of Stroke and Cerebrovascular Diseases

JF - Journal of Stroke and Cerebrovascular Diseases

SN - 1052-3057

IS - 2

ER -