Cerebral arteriopathy associated with Arg179His ACTA2 mutation

被引：17

作者：

Amans, Matthew R. ^{[1
]}

Stout, Charles ^{[2
]}

Fox, Christine ^{[3
]}

Narvid, Jared ^{[1
]}

Hetts, Steven W. ^{[1
]}

Cooke, Daniel L. ^{[1
]}

Higashida, Randall T. ^{[1
]}

Dowd, Christopher F. ^{[1
]}

McSwain, Hugh ^{[1
]}

Halbach, Van V. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA

[2] Univ Massachusetts, Dept Radiol, Worcester, MA 01605 USA

[3] Univ Calif San Francisco, Dept Pediat Neurol, San Francisco, CA 94143 USA

来源：

JOURNAL OF NEUROINTERVENTIONAL SURGERY | 2014年 / 6卷 / 09期

关键词：

THORACIC AORTIC-ANEURYSMS; DISSECTIONS; DYSFUNCTION; PHENOTYPE;

D O I：

10.1136/neurintsurg-2013-010997.rep

中图分类号：

R445 [影像诊断学];

学科分类号：

100207 ;

摘要：

ACTA2 mutations have recently been shown to cause a multisystem smooth muscle dysfunction syndrome that may result in pediatric stroke. We report a case of ACTA2 mutation in a 3-year-old girl presenting with acute ischemic stroke and provide high resolution imaging of the cerebral arteries demonstrating novel findings of multiple tiny aneurysms (particularly in the posterior circulation), as well as the more characteristic imaging phenotype of straightened and narrowed proximal intracranial vessels, dilated cervical vessels and occlusion of the M1 MCA segment without lenticulostriate collateral formation. This newly identified disease should be added to the differential diagnosis of pediatric stroke and cerebral vasculopathy. Neuroradiologists, interventionalists, surgeons and neurologists should become familiar with this rare disease and its clinical sequelae.

引用

页码：E46 / +

页数：5

共 10 条

[1] Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections [J].

Guo, Dong-Chuan ;

Pannu, Hariyadarshi ;

Tran-Fadulu, Van ;

Papke, Christina L. ;

Yu, Robert K. ;

Avidan, Nili ;

Bourgeois, Scott ;

Estrera, Anthony L. ;

Safi, Hazim J. ;

Sparks, Elizabeth ;

Amor, David ;

Ades, Lesley ;

McConnell, Vivienne ;

Willoughby, Colin E. ;

Abuelo, Dianne ;

Willing, Marcia ;

Lewis, Richard A. ;

Kim, Dong H. ;

Scherer, Steve ;

Tung, Poyee P. ;

Ahn, Chul ;

Buja, L. Maximilian ;

Raman, C. S. ;

Shete, Sanjay S. ;

Milewicz, Dianna M. .

NATURE GENETICS, 2007, 39 (12) :1488-1493

[2] Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease [J].

Guo, Dong-Chuan ;

Papke, Christina L. ;

Tran-Fadulu, Van ;

Regalado, Ellen S. ;

Avidan, Nili ;

Johnson, Ralph Jay ;

Kim, Dong H. ;

Pannu, Hariyadarshi ;

Willing, Marcia C. ;

Sparks, Elizabeth ;

Pyeritz, Reed E. ;

Singh, Michael N. ;

Dalman, Ronald L. ;

Grotta, James C. ;

Marian, Ali J. ;

Boerwinkle, Eric A. ;

Frazier, Lorraine Q. ;

LeMaire, Scott A. ;

Coselli, Joseph S. ;

Estrera, Anthony L. ;

Safi, Hazim J. ;

Veeraraghavan, Sudha ;

Muzny, Donna M. ;

Wheeler, David A. ;

Willerson, James T. ;

Yu, Robert K. ;

Shete, Sanjay S. ;

Scherer, Steven E. ;

Raman, C. S. ;

Buja, L. Maximilian ;

Milewicz, Dianna M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) :617-627

[3] Genetic basis of thoracic aortic aneurysms and dissections: Focus on smooth muscle cell contractile dysfunction [J].

Milewicz, Dianna M. ;

Guo, Dong-Chuan ;

Van Tran-Fadulu ;

Lafont, Andrea L. ;

Papke, Christina L. ;

Inamoto, Sakiko ;

Kwartler, Carrie S. ;

Pannu, Hariyadarshi .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2008, 9 :283-302

[4] De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction [J].

Milewicz, Dianna M. ;

Ostergaard, John R. ;

Ala-Kokko, Leena M. ;

Khan, Nadia ;

Grange, Dorothy K. ;

Mendoza-Londono, Roberto ;

Bradley, Timothy J. ;

Olney, Ann Haskins ;

Ades, Lesley ;

Maher, Joseph F. ;

Guo, Dongchuan ;

Buja, L. Maximilian ;

Kim, Dong ;

Hyland, James C. ;

Regalado, Ellen S. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (10) :2437-2443

[5] Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy [J].

Milewicz, Dianna M. ;

Kwartler, Callie S. ;

Papke, Christina L. ;

Regalado, Ellen S. ;

Cao, Jiumei ;

Reid, Amy J. .

GENETICS IN MEDICINE, 2010, 12 (04) :196-203

[6] A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations [J].

Munot, Pinki ;

Saunders, Dawn E. ;

Milewicz, Dianna M. ;

Regalado, Ellen S. ;

Ostergaard, John R. ;

Braun, Kees P. ;

Kerr, Timothy ;

Lichtenbelt, Klaske D. ;

Philip, Sunny ;

Rittey, Christopher ;

Jacques, Thomas S. ;

Cox, Timothy C. ;

Ganesan, Vijeya .

BRAIN, 2012, 135 :2506-2514

[7] Surgical revascularisation for childhood moyamoya [J].

Ng, J. ;

Thompson, D. ;

Lumley, J. P. S. ;

Saunders, D. E. ;

Ganesan, V. .

CHILDS NERVOUS SYSTEM, 2012, 28 (07) :1041-1048

[8] Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations [J].

Nishida, Takeo ;

Faughnan, Marie E. ;

Krings, Timo ;

Chakinala, Murali ;

Gossage, James R. ;

Young, William L. ;

Kim, Helen ;

Pourmohamad, Tony ;

Henderson, Katharine J. ;

Schrum, Stacy D. ;

James, Melissa ;

Quinnine, Nancy ;

Bharatha, Aditya ;

terBrugge, Karel G. ;

White, Robert I., Jr. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (11) :2829-2834

[9] Genetics of intracranial aneurysms [J].

Ruigrok, Ynte M. ;

Rinkel, Gabriel J. E. .

STROKE, 2008, 39 (03) :1049-1055

[10] The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor [J].

Salnikova, Lyubov E. ;

Belopolskaya, Olesya B. ;

Zelinskaya, Natalya I. ;

Rubanovich, Alexander V. .

TUMOR BIOLOGY, 2013, 34 (05) :2709-2719

← 1 →