Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations

References

1. 1.↵
   2. Ganesan V,
   3. Prengler M,
   4. Wade A, et al

   . Clinical and radiological recurrence after childhood arterial ischemic stroke. Circulation 2006;114:2170–77 pmid:17075014

   Abstract/FREE Full Text
2. 2.↵
   2. Munot P,
   3. Saunders DE,
   4. Milewicz DM, et al

   . A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain 2012:135(Pt 8):2506–14 doi:10.1093/brain/aws172 pmid:22831780

   CrossRefPubMedWeb of Science
3. 3.↵
   2. Moosa AN,
   3. Traboulsi EI,
   4. Reid J, et al

   . Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. J Child Neurol 2013;28:531–34 doi:10.1177/0883073812446631 pmid:22752479

   CrossRefPubMedWeb of Science
4. 4.↵
   2. Meuwissen ME,
   3. Lequin MH,
   4. Bindels-de Heus K, et al

   . ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. Am J Med Genet A 2013:161A:1376–80 doi:10.1002/ajmg.a.35858 pmid:23613326

   CrossRefPubMed
5. 5.↵
   2. Milewicz DM,
   3. Østergaard JR,
   4. Ala-Kokko LM, et al

   . De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010:152A:2437–43 doi:10.1002/ajmg.a.33657 pmid:20734336

   CrossRefPubMed
6. 6.↵
   2. Raybaud C

   . The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation. Neuroradiology 2010;52:447–77 doi:10.1007/s00234-010-0696-3 pmid:20422408

   CrossRefPubMedWeb of Science
7. 7.↵
   2. Di Donato N,
   3. Chiari S,
   4. Mirzaa GM, et al

   . Lissencephaly: expanded imaging and clinical classification. Am J Med Genet A 2017;173:1473–88 doi:10.1002/ajmg.a.38245 pmid:28440899

   CrossRefPubMed
8. 8.↵
   2. Perrin BJ,
   3. Ervasti JM

   . The actin gene family: function follows isoform. Cytoskeleton (Hoboken) 2010;67:630–34 doi:10.1002/cm.20475 pmid:20737541

   CrossRefPubMed
9. 9.↵
   2. Ueyama H,
   3. Bruns G,
   4. Kanda N

   . Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10. Jinrui Idengaku Zasshi 1990;35:145–50 doi:10.1007/BF01876459 pmid:2398629

   CrossRefPubMed
10. 10.↵
    2. Belyantseva IA,
    3. Perrin BJ,
    4. Sonnemann KJ, et al

    . Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A 2009;106:9703–08 doi:10.1073/pnas.0900221106 pmid:19497859

    Abstract/FREE Full Text
11. 11.↵
    2. Yuan SM

    . α-Smooth muscle actin and ACTA2 gene expressions in vasculopathies. Braz J Cardiovasc Surg 2015:30:644–49 doi:10.5935/1678-9741.20150081 pmid:26934405

    CrossRefPubMed
12. 12.↵
    2. Raybaud C

    . Normal and abnormal embryology and development of the intracranial vascular system. Neurosurg Clin N Am 2010;21:399–426 doi:10.1016/j.nec.2010.03.011 pmid:20561492

    CrossRefPubMed
13. 13.↵
    2. Georgescu MM,
    3. Pinho Mda C,
    4. Richardson TE, et al

    . The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. Acta Neuropathol Commun 2015;3:81 doi:10.1186/s40478-015-0262-7 pmid:26637293

    CrossRefPubMed
14. 14.↵
    2. de Ruiter MC,
    3. Poelmann RE,
    4. van Iperen L, et al

    . The early development of the tunica media in the vascular system of rat embryos. Anat Embryol (Berl) 1990;181:341–49 pmid:2346227

    PubMed
15. 15.↵
    2. Cheever TR,
    3. Ervasti JM

    . Actin isoforms in neuronal development and function. Int Rev Cell Mol Biol 2013;301:157–213 doi:10.1016/B978-0-12-407704-1.00004-X pmid:23317819

    CrossRefPubMed
16. 16.↵
    2. Poretti A,
    3. Ashmawy R,
    4. Garzon-Muvdi T, et al

    . Chiari type 1 deformity in children: pathogenetic, clinical, neuroimaging, and management aspects. Neuropediatrics 2016;47:293–307 doi:10.1055/s-0036-1584563 pmid:27337547

    CrossRefPubMed
17. 17.↵
    2. Nagarajan K,
    3. Swamiappan E,
    4. Anbazhagan S, et al

    . “Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: a case report. Interv Neuroradiol 2018;24:463–68 doi:10.1177/1591019918765239 pmid:29591721

    CrossRefPubMed