Book contents
- Uncommon Causes of Stroke
- Uncommon Causes of Stroke
- Copyright page
- Contents
- Contributors
- Preface
- Section 1 Infectious Conditions
- Section 2 Inflammatory Conditions
- Section 3 Hereditary and Genetic Conditions and Malformations
- Section 4 Vascular Conditions of the Eyes, Ears, and Brain
- Chapter 36 Eales Disease
- Chapter 37 Acute Posterior Multifocal Placoid Pigment Epitheliopathy
- Chapter 38 Susac Syndrome
- Chapter 39 Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke
- Chapter 40 Cogan Syndrome
- Section 5 Disorders Involving Abnormal Coagulation
- Section 6 Systemic Disorders That Also Involve the Cerebrovascular System
- Section 7 Non-Inflammatory Disorders of the Arterial Wall
- Section 8 Venous Occlusive Conditions
- Section 9 Vasospastic Conditions and Other Miscellaneous Vasculopathies
- Index
- Plate Section (PDF Only)
- References
Chapter 39 - Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke
from Section 4 - Vascular Conditions of the Eyes, Ears, and Brain
Published online by Cambridge University Press: 15 June 2018
Book contents
- Uncommon Causes of Stroke
- Uncommon Causes of Stroke
- Copyright page
- Contents
- Contributors
- Preface
- Section 1 Infectious Conditions
- Section 2 Inflammatory Conditions
- Section 3 Hereditary and Genetic Conditions and Malformations
- Section 4 Vascular Conditions of the Eyes, Ears, and Brain
- Chapter 36 Eales Disease
- Chapter 37 Acute Posterior Multifocal Placoid Pigment Epitheliopathy
- Chapter 38 Susac Syndrome
- Chapter 39 Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke
- Chapter 40 Cogan Syndrome
- Section 5 Disorders Involving Abnormal Coagulation
- Section 6 Systemic Disorders That Also Involve the Cerebrovascular System
- Section 7 Non-Inflammatory Disorders of the Arterial Wall
- Section 8 Venous Occlusive Conditions
- Section 9 Vasospastic Conditions and Other Miscellaneous Vasculopathies
- Index
- Plate Section (PDF Only)
- References
Summary
A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
- Type
- Chapter
- Information
- Uncommon Causes of Stroke , pp. 298 - 301Publisher: Cambridge University PressPrint publication year: 2018
References
Cohen, A. C., Kotschet, K., Veitch, A., Delatycki, M. B., and McCombe, M. F. 2005. Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome. Clin Experiment Ophthalmol, 33, 181–3.Google Scholar
Crow, Y. J., Hayward, B. E., Parmar, R., et al. 2006. Mutations in the gene encoding the 3’–5’ DNA exonuclease TREX1 cause Aicardi–Goutieres syndrome at the AGS1 locus. Nat Genet, 38, 917–20.CrossRefGoogle Scholar
Grand, M. G., Kaie, J., Fulling, K., et al. 1988. Cerebroretinal vasculopathy, a new hereditary syndrome. Ophthalmology, 95, 649–59.CrossRefGoogle ScholarPubMed
Gutmann, D. H., Fishbeck, K. H., and Sergott, R. C. 1989. Hereditary retinal vasculopathy with cerebral white matter lesions. Am J Med Genet, 34, 217–20.Google Scholar
Hasan, M., Fermaintt, C. S., Gao, N., et al. 2015. Cytosolic nuclease TREX1 regulates oligosaccharyl transferase activity independent of nuclease activity to suppress immune activation. Immunity, 43, 463–74.CrossRefGoogle Scholar
Jen, J., Cohen, A. H., Yue, Q., et al. 1997. Hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS). Neurology, 49, 1322–30.CrossRefGoogle ScholarPubMed
Lee-Kirsch, M. A., Gong, M., Chowdhury, D., et al. 2007. Mutations in the gene encoding the 3’-5’ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet, 39, 1065–7.CrossRefGoogle Scholar
Niedermayer, I., Graf, N., Schmidbauer, J., Reiche, W., and Feiden, W. 2000. Cerebroretinal vasculopathy mimicking a brain tumor. Neurology, 54, 1878–9.CrossRefGoogle ScholarPubMed
Ophoff, R. A., DeYoung, J., Service, S. K., et al. 2001. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet, 69, 447–53.CrossRefGoogle ScholarPubMed
Rice, G., Newman, W. G., Dean, J., et al. 2007. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi–Goutieres syndrome. Am J Hum Genet, 80, 811–5.Google Scholar
Richards, A., van den Maagdenberg, A. M., Jen, J. C., et al. 2007. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet, 39, 1068–70.Google Scholar
Terwindt, G. M., Haan, J., Ophoff, R. A., et al. 1998. Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud’s phenomenon. Brain, 121, 303–16.CrossRefGoogle ScholarPubMed