Stroke and stroke-like symptoms in patients with mutations in the POLG1 gene

Waleed Brinjikji, Jerry W. Swanson, Peter J Dyck, Jennifer A. Tracy, Carrie Zabel, Ralitza M Gavrilova

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Introduction/Methods Mutations in POLG1, the gene encoding mitochondrial polymerase gamma (Polg), have been associated with a number of well-characterized phenotypes. In this study, we report two cases of patients with biallelic POLG1 mutations and stroke. We also performed a review of the literature and report on all clinical studies of patients with POLG1 mutations in which stroke was described in the phenotype. For each patient, genotypeand phenotype are reported. Results Including our two patients, a total of 22 patients have been reported with POLG1 mutations and stroke. The average age of onset of stroke in these patients was 9 years with a range of 1–23 years. In cases where localization was reported, the occipital lobes were the primary location of the infarct. Mutations in the linker–linker or linker–polymerase domains were the most frequent genotype observed. Seizures (16/22) and hepatic dysfunction/failure (8/22) were the most commonly reported symptoms in the stroke cohort. Conclusion This article raises an under recognized point that patients with POLG1 mutations may suffer a cerebro vascular accident at a young age. The most common location of the infarction is in the occipital lobe. The presentation may be similar to MELAS and can be misdiagnosed as amigrainous stroke.

Original languageEnglish (US)
Pages (from-to)89-96
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume1
DOIs
StatePublished - Nov 1 2011

Fingerprint

Stroke
Mutation
Genes
Occipital Lobe
Phenotype
MELAS Syndrome
Mitochondrial Genes
Liver Failure
Diagnostic Errors
Age of Onset
Infarction
Accidents
Blood Vessels
Seizures
Genotype

Keywords

  • Mitochondrial
  • POLG1
  • Stroke

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Stroke and stroke-like symptoms in patients with mutations in the POLG1 gene. / Brinjikji, Waleed; Swanson, Jerry W.; Dyck, Peter J; Tracy, Jennifer A.; Zabel, Carrie; Gavrilova, Ralitza M.

In: Journal of Inherited Metabolic Disease, Vol. 1, 01.11.2011, p. 89-96.

Research output: Contribution to journalArticle

@article{bacf3dfcd5694fe68db4be6465cab9bf,
title = "Stroke and stroke-like symptoms in patients with mutations in the POLG1 gene",
abstract = "Introduction/Methods Mutations in POLG1, the gene encoding mitochondrial polymerase gamma (Polg), have been associated with a number of well-characterized phenotypes. In this study, we report two cases of patients with biallelic POLG1 mutations and stroke. We also performed a review of the literature and report on all clinical studies of patients with POLG1 mutations in which stroke was described in the phenotype. For each patient, genotypeand phenotype are reported. Results Including our two patients, a total of 22 patients have been reported with POLG1 mutations and stroke. The average age of onset of stroke in these patients was 9 years with a range of 1–23 years. In cases where localization was reported, the occipital lobes were the primary location of the infarct. Mutations in the linker–linker or linker–polymerase domains were the most frequent genotype observed. Seizures (16/22) and hepatic dysfunction/failure (8/22) were the most commonly reported symptoms in the stroke cohort. Conclusion This article raises an under recognized point that patients with POLG1 mutations may suffer a cerebro vascular accident at a young age. The most common location of the infarction is in the occipital lobe. The presentation may be similar to MELAS and can be misdiagnosed as amigrainous stroke.",
keywords = "Mitochondrial, POLG1, Stroke",
author = "Waleed Brinjikji and Swanson, {Jerry W.} and Dyck, {Peter J} and Tracy, {Jennifer A.} and Carrie Zabel and Gavrilova, {Ralitza M}",
year = "2011",
month = "11",
day = "1",
doi = "10.1007/8904_2011_22",
language = "English (US)",
volume = "1",
pages = "89--96",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",

}

TY - JOUR

T1 - Stroke and stroke-like symptoms in patients with mutations in the POLG1 gene

AU - Brinjikji, Waleed

AU - Swanson, Jerry W.

AU - Dyck, Peter J

AU - Tracy, Jennifer A.

AU - Zabel, Carrie

AU - Gavrilova, Ralitza M

PY - 2011/11/1

Y1 - 2011/11/1

N2 - Introduction/Methods Mutations in POLG1, the gene encoding mitochondrial polymerase gamma (Polg), have been associated with a number of well-characterized phenotypes. In this study, we report two cases of patients with biallelic POLG1 mutations and stroke. We also performed a review of the literature and report on all clinical studies of patients with POLG1 mutations in which stroke was described in the phenotype. For each patient, genotypeand phenotype are reported. Results Including our two patients, a total of 22 patients have been reported with POLG1 mutations and stroke. The average age of onset of stroke in these patients was 9 years with a range of 1–23 years. In cases where localization was reported, the occipital lobes were the primary location of the infarct. Mutations in the linker–linker or linker–polymerase domains were the most frequent genotype observed. Seizures (16/22) and hepatic dysfunction/failure (8/22) were the most commonly reported symptoms in the stroke cohort. Conclusion This article raises an under recognized point that patients with POLG1 mutations may suffer a cerebro vascular accident at a young age. The most common location of the infarction is in the occipital lobe. The presentation may be similar to MELAS and can be misdiagnosed as amigrainous stroke.

AB - Introduction/Methods Mutations in POLG1, the gene encoding mitochondrial polymerase gamma (Polg), have been associated with a number of well-characterized phenotypes. In this study, we report two cases of patients with biallelic POLG1 mutations and stroke. We also performed a review of the literature and report on all clinical studies of patients with POLG1 mutations in which stroke was described in the phenotype. For each patient, genotypeand phenotype are reported. Results Including our two patients, a total of 22 patients have been reported with POLG1 mutations and stroke. The average age of onset of stroke in these patients was 9 years with a range of 1–23 years. In cases where localization was reported, the occipital lobes were the primary location of the infarct. Mutations in the linker–linker or linker–polymerase domains were the most frequent genotype observed. Seizures (16/22) and hepatic dysfunction/failure (8/22) were the most commonly reported symptoms in the stroke cohort. Conclusion This article raises an under recognized point that patients with POLG1 mutations may suffer a cerebro vascular accident at a young age. The most common location of the infarction is in the occipital lobe. The presentation may be similar to MELAS and can be misdiagnosed as amigrainous stroke.

KW - Mitochondrial

KW - POLG1

KW - Stroke

UR - http://www.scopus.com/inward/record.url?scp=84895561094&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84895561094&partnerID=8YFLogxK

U2 - 10.1007/8904_2011_22

DO - 10.1007/8904_2011_22

M3 - Article

VL - 1

SP - 89

EP - 96

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

ER -