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 ArticlePediatric Neuroimaging
Open Access

Disorders of Microtubule Function in Neurons: Imaging Correlates

C.A. Mutch, A. Poduri, M. Sahin, B. Barry, C.A. Walsh and A.J. Barkovich
American Journal of Neuroradiology March 2016, 37 (3) 528-535; DOI: https://doi.org/10.3174/ajnr.A4552
C.A. Mutch
aFrom the Department of Radiology and Biomedical Imaging (C.A.M., A.J.B.), University of California, San Francisco, San Francisco, California
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for C.A. Mutch
A. Poduri
bEpilepsy Genetics Program (A.P., B.B., C.A.W.), Division of Epilepsy and Clinical Neurophysiology
cF.M. Kirby Neurobiology Center (A.P., B.B., C.A.W.)
dDivision of Genetics and Genomics (B.B., C.A.W.), Department of Medicine, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts
eDepartment of Neurology (A.P., M.S., B.B., C.A.W.), Harvard Medical School, Boston, Massachusetts.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A. Poduri
M. Sahin
eDepartment of Neurology (A.P., M.S., B.B., C.A.W.), Harvard Medical School, Boston, Massachusetts.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Sahin
B. Barry
bEpilepsy Genetics Program (A.P., B.B., C.A.W.), Division of Epilepsy and Clinical Neurophysiology
cF.M. Kirby Neurobiology Center (A.P., B.B., C.A.W.)
eDepartment of Neurology (A.P., M.S., B.B., C.A.W.), Harvard Medical School, Boston, Massachusetts.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for B. Barry
C.A. Walsh
bEpilepsy Genetics Program (A.P., B.B., C.A.W.), Division of Epilepsy and Clinical Neurophysiology
cF.M. Kirby Neurobiology Center (A.P., B.B., C.A.W.)
dDivision of Genetics and Genomics (B.B., C.A.W.), Department of Medicine, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts
eDepartment of Neurology (A.P., M.S., B.B., C.A.W.), Harvard Medical School, Boston, Massachusetts.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for C.A. Walsh
A.J. Barkovich
aFrom the Department of Radiology and Biomedical Imaging (C.A.M., A.J.B.), University of California, San Francisco, San Francisco, California
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A.J. Barkovich
  • Article
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Dobyns W,
    2. Reiner O,
    3. Carrozzo R, et al
    . Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993;270:2838–42 doi:10.1001/jama.1993.03510230076039 pmid:7907669
    CrossRefPubMedWeb of Science
  2. 2.↵
    1. Gleeson JG,
    2. Allen KA,
    3. Fox JW, et al
    . Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63–72 doi:10.1016/S0092-8674(00)80899-5 pmid:9489700
    CrossRefPubMedWeb of Science
  3. 3.↵
    1. Kitamura K,
    2. Yanazawa M,
    3. Sugiyama N, et al
    . Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32:359–69 doi:10.1038/ng1009 pmid:12379852
    CrossRefPubMedWeb of Science
  4. 4.↵
    1. Barkovich AJ,
    2. Jackson DE Jr.,
    3. Boyer RS
    . Band heterotopia: a newly recognized neuronal migration anomaly. Radiology 1989;171:455–58 doi:10.1148/radiology.171.2.2468173 pmid:2468173
    CrossRefPubMedWeb of Science
  5. 5.↵
    1. Barkovich AJ,
    2. Ferriero DM,
    3. Barr RM, et al
    . Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics 1998;29:113–19 doi:10.1055/s-2007-973545 pmid:9706619
    CrossRefPubMedWeb of Science
  6. 6.↵
    1. Poirier K,
    2. Keays DA,
    3. Francis F, et al
    . Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007;28:1055–64 doi:10.1002/humu.20572 pmid:17584854
    CrossRefPubMedWeb of Science
  7. 7.↵
    1. Bahi-Buisson N,
    2. Poirier K,
    3. Boddaert N, et al
    . Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 2008;45:647–53 doi:10.1136/jmg.2008.058073 pmid:18728072
    Abstract/FREE Full Text
  8. 8.↵
    1. Poirier K,
    2. Lebrun N,
    3. Broix L, et al
    . Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013;45:639–47 doi:10.1038/ng.2613 pmid:23603762
    CrossRefPubMed
  9. 9.↵
    1. Bahi-Buisson N,
    2. Poirier K,
    3. Fourniol F, et al
    ; LIS-Tubulinopathies Consortium. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 2014;137:1676–700 doi:10.1093/brain/awu082 pmid:24860126
    Abstract/FREE Full Text
  10. 10.↵
    1. Cushion TD,
    2. Dobyns WB,
    3. Mullins JG, et al
    . Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 2013;136:536–48 doi:10.1093/brain/aws338 pmid:23361065
    Abstract/FREE Full Text
  11. 11.↵
    1. Doherty D,
    2. Millen KJ,
    3. Barkovich AJ
    . Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol 2013;12:381–93 doi:10.1016/S1474-4422(13)70024-3 pmid:23518331
    CrossRefPubMedWeb of Science
  12. 12.↵
    1. Dobyns WB,
    2. Truwit CL,
    3. Ross ME, et al
    . Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270–77 doi:10.1212/WNL.53.2.270 pmid:10430413
    Abstract/FREE Full Text
  13. 13.↵
    1. Franker MA,
    2. Hoogenraad CC
    . Microtubule-based transport: basic mechanisms, traffic rules and role in neurological pathogenesis. J Cell Sci 2013;126:2319–29 doi:10.1242/jcs.115030 pmid:23729742
    Abstract/FREE Full Text
  14. 14.↵
    1. Kuijpers M,
    2. Hoogenraad CC
    . Centrosomes, microtubules and neuronal development. Mol Cell Neurosci 2011;48:349–58 doi:10.1016/j.mcn.2011.05.004 pmid:21722732
    CrossRefPubMed
  15. 15.↵
    1. Jaglin XH,
    2. Chelly J
    . Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 2009;25:555–66 doi:10.1016/j.tig.2009.10.003 pmid:19864038
    CrossRefPubMedWeb of Science
  16. 16.↵
    1. Breuss M,
    2. Heng JI,
    3. Poirier K, et al
    . Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep 2012;2:1554–62 doi:10.1016/j.celrep.2012.11.017 pmid:23246003
    CrossRefPubMedWeb of Science
  17. 17.↵
    1. Cushion TD,
    2. Paciorkowski AR,
    3. Pilz DT, et al
    . De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet 2014;94:634–41 doi:10.1016/j.ajhg.2014.03.009 pmid:24702957
    CrossRefPubMed
  18. 18.↵
    1. Chew S,
    2. Balasubramanian R,
    3. Chan WM, et al
    . A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain 2013;136:522–35 doi:10.1093/brain/aws345 pmid:23378218
    Abstract/FREE Full Text
  19. 19.↵
    1. Jaglin XH,
    2. Poirier K,
    3. Saillour Y, et al
    . Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009;41:746–52 doi:10.1038/ng.380 pmid:19465910
    CrossRefPubMedWeb of Science
  20. 20.↵
    1. Kumar RA,
    2. Pilz DT,
    3. Babatz TD, et al
    . TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet 2010;19:2817–27 doi:10.1093/hmg/ddq182 pmid:20466733
    Abstract/FREE Full Text
  21. 21.↵
    1. Morris-Rosendahl DJ,
    2. Najm J,
    3. Lachmeijer AM, et al
    . Refining the phenotype of alpha-1a tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet 2008;74:425–33 doi:10.1111/j.1399-0004.2008.01093.x pmid:18954413
    CrossRefPubMedWeb of Science
  22. 22.↵
    1. Poirier K,
    2. Saillour Y,
    3. Bahi-Buisson N, et al
    . Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010;19:4462–73 doi:10.1093/hmg/ddq377 pmid:20829227
    Abstract/FREE Full Text
  23. 23.↵
    1. Romaniello R,
    2. Tonelli A,
    3. Arrigoni F, et al
    . A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Dev Med Child Neurol 2012;54:765–69 doi:10.1111/j.1469-8749.2012.04316.x pmid:22591407
    CrossRefPubMed
  24. 24.↵
    1. Kneussel M,
    2. Wagner W
    . Myosin motors at neuronal synapses: drivers of membrane transport and actin dynamics. Nat Rev Neurosci 2013;14:233–47 doi:10.1038/nrn3445 pmid:23481482
    CrossRefPubMed
  25. 25.↵
    1. Kollman JM,
    2. Merdes A,
    3. Mourey L, et al
    . Microtubule nucleation by γ-tubulin complexes. Nat Rev Mol Cell Biol 2011;12:709–21 doi:10.1038/nrm3209 pmid:21993292
    CrossRefPubMed
  26. 26.↵
    1. Slováková J,
    2. Speicher S,
    3. Sánchez-Soriano N, et al
    . The actin-binding protein Canoe/AF-6 forms a complex with Robo and is required for Slit-Robo signaling during axon pathfinding at the CNS midline. J Neurosci 2012;32:10035–44 doi:10.1523/JNEUROSCI.6342-11.2012 pmid:22815517
    Abstract/FREE Full Text
  27. 27.↵
    1. Tanaka E,
    2. Ho T,
    3. Kirschner MW
    . The role of microtubule dynamics in growth cone motility and axonal growth. J Cell Biol 1995;128:139–55 doi:10.1083/jcb.128.1.139 pmid:7822411
    Abstract/FREE Full Text
  28. 28.↵
    1. Tanaka EM,
    2. Kirschner MW
    . Microtubule behavior in the growth cones of living neurons during axon elongation. J Cell Biol 1991;115:345–63 doi:10.1083/jcb.115.2.345 pmid:1918145
    Abstract/FREE Full Text
  29. 29.↵
    1. Huang J,
    2. Roberts Anthony J,
    3. Leschziner Andres E, et al
    . Lis1 acts as a “clutch” between the ATPase and microtubule-binding domains of the dynein motor. Cell 2012;150:975–86 doi:10.1016/j.cell.2012.07.022 pmid:22939623
    CrossRefPubMedWeb of Science
  30. 30.↵
    1. Qu C,
    2. Dwyer T,
    3. Shao Q, et al
    . Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance. J Cell Sci 2013;126:3070–81 doi:10.1242/jcs.122184 pmid:23641072
    Abstract/FREE Full Text
  31. 31.↵
    1. Liu G,
    2. Dwyer T
    . Microtubule dynamics in axon guidance. Neurosci Bull 2014;30:569–83 doi:10.1007/s12264-014-1444-6 pmid:24968808
    CrossRefPubMed
  32. 32.↵
    1. Fallet-Bianco C,
    2. Laquerriere A,
    3. Poirier K, et al
    . Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly. Acta Neuropathol Commun 2014;2:69 doi:10.1186/2051-5960-2-69 pmid:25059107
    CrossRefPubMed
  33. 33.↵
    1. Bahi-Buisson N,
    2. Souville I,
    3. Fourniol FJ, et al
    ; SBH-LIS European Consortium. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain 2013;136(pt 1):223–44 doi:10.1093/brain/aws323 pmid:23365099
    Abstract/FREE Full Text
  34. 34.↵
    1. Uyanik G,
    2. Morris-Rosendahl D,
    3. Stiegler J, et al
    . Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology 2007;69:442–47 doi:10.1212/01.wnl.0000266629.98503.d0 pmid:17664403
    Abstract/FREE Full Text
  35. 35.↵
    1. Goldowitz D,
    2. Hamre K,
    3. Przyborski S, et al
    . Granule cells and cerebellar boundaries: analysis of Unc5h3 mutant chimeras. J Neurosci 2000;20:4129–37 pmid:10818148
    Abstract/FREE Full Text
  36. 36.↵
    1. Jen JC,
    2. Chan WM,
    3. Bosley TM, et al
    . Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004;304:1509–13 doi:10.1126/science.1096437 pmid:15105459
    Abstract/FREE Full Text
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 37 (3)
American Journal of Neuroradiology
Vol. 37, Issue 3
1 Mar 2016
  • Table of Contents
  • Index by author
  • Complete Issue (PDF)
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.
Disorders of Microtubule Function in Neurons: Imaging Correlates
(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
C.A. Mutch, A. Poduri, M. Sahin, B. Barry, C.A. Walsh, A.J. Barkovich
Disorders of Microtubule Function in Neurons: Imaging Correlates
American Journal of Neuroradiology Mar 2016, 37 (3) 528-535; DOI: 10.3174/ajnr.A4552

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
Disorders of Microtubule Function in Neurons: Imaging Correlates
C.A. Mutch, A. Poduri, M. Sahin, B. Barry, C.A. Walsh, A.J. Barkovich
American Journal of Neuroradiology Mar 2016, 37 (3) 528-535; DOI: 10.3174/ajnr.A4552
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • Materials and Methods
    • Results
    • Discussion
    • Conclusions
    • Footnotes
    • References
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • PubMed
  • Google Scholar

Cited By...

  • The First Report of a Homozygous TUBG1 Splice Variant: Expanding the Genetic Spectrum of Tubulinopathies and Confirming the Dominant-Negative Effect
  • Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
  • Defining the phenotypical spectrum associated with variants in TUBB2A
  • Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals
  • Genome-wide association studies of brain structure and function in the UK Biobank
  • Crossref
  • Google Scholar

This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.

More in this TOC Section

Pediatric Neuroimaging

  • Sodium MRI in Pediatric Brain Tumors
  • FRACTURE MR in Congenital Vertebral Anomalies
  • Comparing MRI Perfusion in Pediatric Brain Tumors
Show more Pediatric Neuroimaging

Adult Brain

  • Diagnostic Neuroradiology of Monoclonal Antibodies
  • Cerebral ADC Changes in Fabry Disease
  • ML for Glioma Molecular Subtype Prediction
Show more Adult Brain

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