Moyamoya Disease and Spectrums of RNF213 Vasculopathy
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 ( RNF213 ) gene, at chromosome 17q25.3, is the stronge...
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| Published in | Translational stroke research Vol. 11; no. 4; pp. 580 - 589 |
|---|---|
| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Springer US
01.08.2020
Springer Nature B.V |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1868-4483 1868-601X 1868-601X |
| DOI | 10.1007/s12975-019-00743-6 |
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| Abstract | Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the
Ring Finger Protein 213
(
RNF213
) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the
RNF213
variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of
RNF213
vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians. |
|---|---|
| AbstractList | Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians. Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians.Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 (RNF213) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians. Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. A polymorphism (R4810K) in the Ring Finger Protein 213 ( RNF213 ) gene, at chromosome 17q25.3, is the strongest genetic susceptibility factor for MMD in East Asian populations. MMD was regarded prevalent in childhood and in East Asian populations. However, the so-called MMD could represent only the tip of the iceberg. MMD is increasingly reported in adult patients and in Western populations. Moreover, the RNF213 variant was recently reported to be associated with non-MMD disorders, such as intracranial atherosclerosis and systemic vasculopathy (e.g., peripheral pulmonary artery stenosis and renal artery stenosis). In this review, we summarize the spectrums of RNF213 vasculopathy in terms of clinical and genetic phenotypes. Continuous efforts are required for pathophysiology-based diagnoses and treatment, which will benefit from collaboration between clinicians and researchers, and between stroke and vascular physicians. |
| Author | Koizumi, Akio Yeon, Je Young Kim, Duk-Kyung Ki, Chang-Seok Bang, Oh Young Kim, Jong-Soo Chung, Jong-Won Won, Hong-Hee Hong, Seung Chyul Shin, Hyung Jin Kim, Dong Hee |
| Author_xml | – sequence: 1 givenname: Oh Young surname: Bang fullname: Bang, Oh Young email: ohyoung.bang@samsung.com organization: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University, Translation and Stem Cell Research Laboratory on Stroke, Samsung Medical Center – sequence: 2 givenname: Jong-Won surname: Chung fullname: Chung, Jong-Won organization: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Translation and Stem Cell Research Laboratory on Stroke, Samsung Medical Center – sequence: 3 givenname: Dong Hee surname: Kim fullname: Kim, Dong Hee organization: Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University, Translation and Stem Cell Research Laboratory on Stroke, Samsung Medical Center – sequence: 4 givenname: Hong-Hee surname: Won fullname: Won, Hong-Hee organization: Samsung Advanced Institute for Health Sciences and Technology, Samsung Medical Center, Sungkyunkwan University – sequence: 5 givenname: Je Young surname: Yeon fullname: Yeon, Je Young organization: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine – sequence: 6 givenname: Chang-Seok surname: Ki fullname: Ki, Chang-Seok organization: Green Cross Genome – sequence: 7 givenname: Hyung Jin surname: Shin fullname: Shin, Hyung Jin organization: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine – sequence: 8 givenname: Jong-Soo surname: Kim fullname: Kim, Jong-Soo organization: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine – sequence: 9 givenname: Seung Chyul surname: Hong fullname: Hong, Seung Chyul organization: Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine – sequence: 10 givenname: Duk-Kyung surname: Kim fullname: Kim, Duk-Kyung organization: Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine – sequence: 11 givenname: Akio surname: Koizumi fullname: Koizumi, Akio organization: Institute of Public Health and Welfare Research, Department of Health and Environmental Sciences, Kyoto University, Graduate School of Medicine |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31650369$$D View this record in MEDLINE/PubMed |
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| Keywords | Vasculopathy Mechanisms Moyamoya disease Moyamoya Biomarkers Genetics Polymorphism RNF213 |
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| Title | Moyamoya Disease and Spectrums of RNF213 Vasculopathy |
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