Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • AJNR Case Collection
    • Case of the Week Archive
    • Classic Case Archive
    • Case of the Month Archive
  • Special Collections
    • Spinal CSF Leak Articles (Jan 2020-June 2024)
    • 2024 AJNR Journal Awards
    • Most Impactful AJNR Articles
  • Multimedia
    • AJNR Podcast
    • AJNR Scantastics
    • Video Articles
  • For Authors
    • Submit a Manuscript
    • Author Policies
    • Fast publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Manuscript Submission Guidelines
    • Imaging Protocol Submission
    • Submit a Case for the Case Collection
  • About Us
    • About AJNR
    • Editorial Board
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Other Publications
    • ajnr

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
    • AJNR Case Collection
    • Case of the Week Archive
    • Classic Case Archive
    • Case of the Month Archive
  • Special Collections
    • Spinal CSF Leak Articles (Jan 2020-June 2024)
    • 2024 AJNR Journal Awards
    • Most Impactful AJNR Articles
  • Multimedia
    • AJNR Podcast
    • AJNR Scantastics
    • Video Articles
  • For Authors
    • Submit a Manuscript
    • Author Policies
    • Fast publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Manuscript Submission Guidelines
    • Imaging Protocol Submission
    • Submit a Case for the Case Collection
  • About Us
    • About AJNR
    • Editorial Board
  • 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

Welcome to the new AJNR, Updated Hall of Fame, and more. Read the full announcements.


AJNR is seeking candidates for the position of Associate Section Editor, AJNR Case Collection. Read the full announcement.

 

Research ArticleAdult Brain

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy and F. Mochel
American Journal of Neuroradiology May 2019, 40 (5) 788-791; DOI: https://doi.org/10.3174/ajnr.A6036
L. Saint-Val
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for L. Saint-Val
T. Courtin
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for T. Courtin
P. Charles
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for P. Charles
C. Verny
dDepartment of Neurology and Reference Center for Neurogenetic Diseases (C.V.), Angers University Hospital, Angers, France
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for C. Verny
M. Catala
cDepartment of Neurology (M.C.), Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière University Hospital, Paris, France
eSorbonne Université (M.C.), Centre National de la Recherche Scientifique UMR 7622, Institut National de la Santé et de la Recherche Médicale ERL 1156, Institut de Biologie Paris-Seine, Paris, France
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Catala
R. Schiffmann
fBaylor Scott & White Research Institute (R.S.), Dallas, Texas
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for R. Schiffmann
O. Boespflug-Tanguy
gDepartment of Neuropediatrics and Reference Center for Leukodystrophy and Leukoencephalopathy (O.B.-T.), Assistance Publique–Hôpitaux de Paris, Robert-Debré University Hospital, Paris, France
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for O. Boespflug-Tanguy
F. Mochel
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
bReference Center for Adult Neurometabolic Diseases (F.M.)
hGroupe de Recherche Clinique No. 13, Neurométabolisme (F.M.), Sorbonne Université, Paris, France
iSorbonne Université (F.M.), Université Pierre-et-Marie-Curie–Paris 6, UMR S 1127 and Institut National de la Santé et de la Recherche Médicale U 1127, and Centre National de la Recherche Scientifique UMR 7225, and Brain and Spine Institute, F-75013, Paris, France.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for F. Mochel
  • Article
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

REFERENCES

  1. 1.↵
    1. Paznekas WA,
    2. Boyadjiev SA,
    3. Shapiro RE, et al
    . Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408–18 doi:10.1086/346090 pmid:12457340
    CrossRefPubMedWeb of Science
  2. 2.↵
    1. Gutmann DH,
    2. Zackai EH,
    3. McDonald-McGinn DM, et al
    . Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. Am J Med Genet 1991;41:18–20 doi:10.1002/ajmg.1320410106 pmid:1659191
    CrossRefPubMedWeb of Science
  3. 3.↵
    1. Loddenkemper T,
    2. Grote K,
    3. Evers S, et al
    . Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002;249:584–95 doi:10.1007/s004150200068 pmid:12021949
    CrossRefPubMedWeb of Science
  4. 4.↵
    1. Vanderver A,
    2. Prust M,
    3. Tonduti D, et al
    ; GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab 2015;114:494–500 doi:10.1016/j.ymgme.2015.01.006 pmid:25649058
    CrossRefPubMed
  5. 5.↵
    1. Paznekas WA,
    2. Karczeski B,
    3. Vermeer S, et al
    . GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009;30:724–33 doi:10.1002/humu.20958 pmid:19338053
    CrossRefPubMedWeb of Science
  6. 6.↵
    1. Orthmann-Murphy JL,
    2. Salsano E,
    3. Abrams CK, et al
    . Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 2009;132(Pt 2):426–38 doi:10.1093/brain/awn328 pmid:19056803
    CrossRefPubMedWeb of Science
  7. 7.↵
    1. May D,
    2. Tress O,
    3. Seifert G, et al
    . Connexin47 protein phosphorylation and stability in oligodendrocytes depend on expression of connexin43 protein in astrocytes. J Neurosci 2013;33:7985–96 doi:10.1523/JNEUROSCI.5874-12.2013 pmid:23637189
    Abstract/FREE Full Text
  8. 8.↵
    1. Uhlenberg B,
    2. Schuelke M,
    3. Rüschendorf F, et al
    . Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 2004;75:251–60 doi:10.1086/422763 pmid:15192806
    CrossRefPubMedWeb of Science
  9. 9.↵
    1. Furuta N,
    2. Ikeda M,
    3. Hirayanagi K, et al
    . A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. Intern Med 2012;51:93–98 doi:10.2169/internalmedicine.51.5770 pmid:22214631
    CrossRefPubMed
  10. 10.↵
    1. Tumminelli G,
    2. Di Donato I,
    3. Guida V, et al
    . Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene. J Alzheimers Dis 2016;49:27–30 doi:10.3233/JAD-150424 pmid:26444782
    CrossRefPubMed
  11. 11.↵
    1. Hayflick SJ
    . Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name. Curr Opin Pediatr 2003;15:572–77 doi:10.1097/00008480-200312000-00005 pmid:14631201
    CrossRefPubMedWeb of Science
  12. 12.↵
    1. La Piana R,
    2. Tonduti D,
    3. Gordish Dressman H, et al
    . Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. J Child Neurol 2014;29:214–20 doi:10.1177/0883073813503902 pmid:24105487
    CrossRefPubMed
  13. 13.↵
    1. Curiel J,
    2. Rodríguez Bey G,
    3. Takanohashi A, et al
    . TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Hum Mol Genet 2017;26:4506–18 doi:10.1093/hmg/ddx338 pmid:28973395
    CrossRefPubMed
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 40 (5)
American Journal of Neuroradiology
Vol. 40, Issue 5
1 May 2019
  • 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.
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
(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
L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
American Journal of Neuroradiology May 2019, 40 (5) 788-791; DOI: 10.3174/ajnr.A6036

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
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel
American Journal of Neuroradiology May 2019, 40 (5) 788-791; DOI: 10.3174/ajnr.A6036
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
    • Acknowledgments
    • Footnotes
    • REFERENCES
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Crossref (4)
  • Google Scholar

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

  • Hypomyelinating leukodystrophies — unravelling myelin biology
    Nicole I. Wolf, Charles ffrench-Constant, Marjo S. van der Knaap
    Nature Reviews Neurology 2021 17 2
  • Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
    Emanuele Panza, Arun Meyyazhagan, Antonio Orlacchio
    Experimental Neurology 2022 357
  • Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies
    Angela Lanciotti, Maria Stefania Brignone, Pompeo Macioce, Sergio Visentin, Elena Ambrosini
    International Journal of Molecular Sciences 2021 23 1
  • Inherited White Matter Disorders and Their Mimics
    Eleonora Mura, Cecilia Parazzini, Davide Tonduti
    2024 204

More in this TOC Section

Adult Brain

  • Diagnostic Neuroradiology of Monoclonal Antibodies
  • Segmentation of Brain Metastases with BLAST
  • NCCT vs. MRI for Brain Atrophy in Acute Stroke
Show more Adult Brain

Pediatrics

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

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editors Choice
  • Fellow Journal Club
  • Letters to the Editor

Cases

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

Special Collections

  • Special Collections

Resources

  • News and Updates
  • Turn around Times
  • Submit a Manuscript
  • Author Policies
  • Manuscript Submission Guidelines
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Submit a Case
  • Become a Reviewer/Academy of Reviewers
  • Get Peer Review Credit from Publons

Multimedia

  • AJNR Podcast
  • AJNR SCANtastic
  • Video Articles

About Us

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

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