Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

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
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
H. Arai
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
S. Nabatame
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
S. Hirai
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
S. Hayashi
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
J. Inazawa
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
N. Okamoto
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
A.J. Barkovich
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Barkovich AJ,
    2. Millen KJ,
    3. Dobyns WB
    . A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009; 132: 3199– 230
    Abstract/FREE Full Text
  2. 2.↵
    1. Najm J,
    2. Horn D,
    3. Wimplinger I,
    4. et al
    . Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 2008; 40: 1065– 67
    CrossRefPubMedWeb of Science
  3. 3.↵
    1. Hayashi S,
    2. Mizuno S,
    3. Migata O,
    4. et al
    . The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet A 2008; 146A: 2145– 51
  4. 4.↵
    1. Hackett A,
    2. Tarpey PS,
    3. Licata A,
    4. et al
    . CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet 2010; 18: 544– 52
    CrossRefPubMedWeb of Science
  5. 5.↵
    1. Tanaka M,
    2. Tanaka Y,
    3. Hamano S,
    4. et al
    . A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings [in Japanese]. No To Hattatsu 1997; 29: 488– 93
    PubMed
  6. 6.↵
    1. Ninchoji T,
    2. Takanashi J
    . Pontine hypoplasia in 5p-syndrome; a key MRI finding for a diagnosis. Brain Dev 2010; 32: 571– 73
    CrossRefPubMed
  7. 7.↵
    1. Hsueh Y-P
    . Calcium/calmodulin-dependent serine protein kinase and mental retardation. Ann Neurol 2009; 66: 438– 43
    CrossRefPubMed
  8. 8.↵
    1. Hsueh Y-P
    . The role of the MAGUK protein CASK in neural development and synaptic function. Curr Med Chem 2006; 13: 1915– 27
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Atasoy D,
    2. Schoch S,
    3. Ho A,
    4. et al
    . Deletion of CASK in mice is lethal and impairs synaptic function. Proc Natl Acad Sci U S A 2007; 104: 2525– 30
    Abstract/FREE Full Text
  10. 10.↵
    1. Hevner RF,
    2. Shi L,
    3. Justice N,
    4. et al
    . Tbr1 regulates differentiation of the preplate and layer 6. Neuron 2001; 29: 353– 66
    CrossRefPubMedWeb of Science
  11. 11.↵
    1. D'Arcangelo G,
    2. Curran T
    . Reeler: new tales on an old mutant mouse. Bioessays 1998; 20: 235– 44
    CrossRefPubMedWeb of Science
  12. 12.↵
    1. Hong SE,
    2. Shugart YY,
    3. Huang DT,
    4. et al
    . Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26: 93– 96
    CrossRefPubMedWeb of Science
  13. 13.↵
    1. Parisi MA,
    2. Dobyns WB
    . Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 2003; 80: 36– 53
    CrossRefPubMedWeb of Science
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 31 (9)
American Journal of Neuroradiology
Vol. 31, Issue 9
1 Oct 2010
  • Table of Contents
  • Index by author
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Neuroradiologic Features of CASK Mutations
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
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

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
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
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • Abbreviations
    • Case Series
    • Discussion
    • Conclusions
    • Acknowledgments
    • Footnotes
    • References
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

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
    Molecular Genetics & Genomic Medicine 2017 5 4

More in this TOC Section

  • SyMRI & MR Fingerprinting in Brainstem Myelination
  • Comparison of Image Quality and Radiation Dose in Pediatric Temporal Bone CT Using Photon-Counting Detector CT and Energy-Integrating Detector CT
  • Dual-Layer Detector CT for PEDS Image Quality
Show more Pediatrics

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire