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Research ArticlePediatrics
Open Access

Neuroradiologic Features of CASK Mutations

J. Takanashi, H. Arai, S. Nabatame, S. Hirai, S. Hayashi, J. Inazawa, N. Okamoto and A.J. Barkovich
American Journal of Neuroradiology October 2010, 31 (9) 1619-1622; DOI: https://doi.org/10.3174/ajnr.A2173
J. Takanashi
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S. Hirai
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S. Hayashi
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Article Information

vol. 31 no. 9 1619-1622
DOI 
https://doi.org/10.3174/ajnr.A2173
PubMed 
20595373

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received February 24, 2010
  • Accepted after revision April 5, 2010
  • Published online October 8, 2010.

Article Versions

  • Latest version (July 1, 2010 - 06:40).
  • Latest version (July 6, 2010 - 08:03).
  • You are viewing the most recent version of this article.
Copyright & Usage 
Copyright © American Society of Neuroradiology Indicates open access to non-subscribers at www.ajnr.org

Author Information

  1. J. Takanashia,
  2. H. Araib,
  3. S. Nabatameb,
  4. S. Hiraib,
  5. S. Hayashic,
  6. J. Inazawac,
  7. N. Okamotod and
  8. A.J. Barkoviche
  1. aFrom the Department of Pediatrics (J.T.), Kameda Medical Center, Kamogawa, Japan
  2. bDepartment of Pediatric Neurology (H.A., S.N., S. Hirai), Morinomiya Hospital, Osaka, Japan
  3. cDepartment of Molecular Cytogenetics (S. Hayashi, J.I.), Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan
  4. dDepartment of Medical Genetics (N.O.), Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
  5. eDepartment of Radiology and Biomedical Imaging (A.J.B.), University of California San Francisco, San Francisco, California.
  1. Please address correspondence to Jun-ichi Takanashi, MD, Department of Pediatrics, Kameda Medical Center, 929 Higashi-cho, Kamogawa-shi, Chiba 296-8602, Japan; e-mail: jtaka{at}kameda.jp
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Cite this article
J. Takanashi, H. Arai, S. Nabatame, S. Hirai, S. Hayashi, J. Inazawa, N. Okamoto, A.J. Barkovich
Neuroradiologic Features of CASK Mutations
American Journal of Neuroradiology Oct 2010, 31 (9) 1619-1622; DOI: 10.3174/ajnr.A2173

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Neuroradiologic Features of CASK Mutations
J. Takanashi, H. Arai, S. Nabatame, S. Hirai, S. Hayashi, J. Inazawa, N. Okamoto, A.J. Barkovich
American Journal of Neuroradiology Oct 2010, 31 (9) 1619-1622; DOI: 10.3174/ajnr.A2173
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Cited By...

  • Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
  • Complete loss of the X-linked gene CASK causes severe cerebellar degeneration
  • Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
  • Complete loss of CASK causes severe ataxia through cerebellar degeneration in human and mouse
  • Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution
  • Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI
  • Phenotypic spectrum associated with CASK loss-of-function mutations
  • Crossref (37)
  • Google Scholar

This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • A developmental and genetic classification for malformations of cortical development: update 2012
    A. James Barkovich, Renzo Guerrini, Ruben I. Kuzniecky, Graeme D. Jackson, William B. Dobyns
    Brain 2012 135 5
  • Congenital Abnormalities of the Posterior Fossa
    Thangamadhan Bosemani, Gunes Orman, Eugen Boltshauser, Aylin Tekes, Thierry A. G. M. Huisman, Andrea Poretti
    RadioGraphics 2015 35 1
  • Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
    Andrea Poretti, Eugen Boltshauser, Dan Doherty
    American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2014 166 2
  • Malformations of cortical development
    Rahul S. Desikan, A. James Barkovich
    Annals of Neurology 2016 80 6
  • Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
    Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez
    Orphanet Journal of Rare Diseases 2012 7 1
  • Phenotypic and molecular insights into CASK-related disorders in males
    Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger Yntema, Björn Menten, Joachim Pietz, Rolph Pfundt, Jörg Schmidtke, Doris Steinemann, Constance T Stumpel, Lionel Van Maldergem, Kerstin Kutsche
    Orphanet Journal of Rare Diseases 2015 10 1
  • Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
    Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa, Barbara Bardoni
    PLOS ONE 2017 12 8
  • Update on neuroimaging phenotypes of mid-hindbrain malformations
    Patrice Jissendi-Tchofo, Mariasavina Severino, Béatrice Nguema-Edzang, Cissé Toure, Gustavo Soto Ares, Anthony James Barkovich
    Neuroradiology 2015 57 2
  • Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations
    Jun‐ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, Shin Hayashi, Hiroshi Arai, Yukitoshi Takahashi, Koichi Maruyama, Seiji Mizuno, Shuichi Shimakawa, Hiroaki Ono, Reiki Oyanagi, Satomi Kubo, A. James Barkovich, Johji Inazawa
    American Journal of Medical Genetics Part A 2012 158A 12
  • Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome
    Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
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