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

doi:10.3174/ajnr.A6036

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

Submit a Response to This Article

Compose eLetter

Title *

Contents

More information about text formats

Plain text

No HTML tags allowed.
Web page addresses and e-mail addresses turn into links automatically.
Lines and paragraphs break automatically.

Author Information

Contributors
First Name and Middle Initial * First or given name, e.g. 'Peter'. Last Name * Your last, or family, name, e.g. 'MacMoody'. Email Address * Your email address, e.g. higgs-boson@gmail.com Occupation * Your role and/or occupation, e.g. 'Orthopedic Surgeon'. Affiliation * Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.

Statement of Competing Interests

Competing interests? *

Yes

Please describe the competing interests

Vertical Tabs

Jump to comment:

No eLetters have been published for this article.

PreviousNext

In this issue

American Journal of Neuroradiology

Vol. 40, Issue 5

1 May 2019

Table of Contents
Index by author
Complete Issue (PDF)

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.

Your Email *

Your Name *

Send To *

Enter multiple addresses on separate lines or separate them with commas.

You are going to email the following GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Message Subject (Your Name) has sent you a message from American Journal of Neuroradiology

Message Body (Your Name) thought you would like to see the American Journal of Neuroradiology web site.

Your Personal Message

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

Bookmark this article

User Name *

Password *

Remember my user name & password.

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

Share This Article:

Tweet Widget
Facebook Like
Google Plus One

Purchase

Jump to section

Article
Figures & Data
Supplemental
Info & Metrics
Responses
References
PDF

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

Adult Brain

Diagnostic Neuroradiology of Monoclonal Antibodies
ML for Glioma Molecular Subtype Prediction
Segmentation of Brain Metastases with BLAST

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

Main menu

User menu

Search

American Journal of Neuroradiology

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Plain text

Vertical Tabs

Jump to comment:

In this issue

Citation Manager Formats

Related Articles

Cited By...

More in this TOC Section

Adult Brain

Pediatrics

Similar Articles

Indexed Content

Cases

Special Collections

Resources

Multimedia

About Us

American Society of Neuroradiology