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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 April 2019, 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.)
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T. Courtin
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
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P. Charles
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
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C. Verny
dDepartment of Neurology and Reference Center for Neurogenetic Diseases (C.V.), Angers University Hospital, Angers, France
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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
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R. Schiffmann
fBaylor Scott & White Research Institute (R.S.), Dallas, Texas
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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
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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.
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Article Information

DOI 
https://doi.org/10.3174/ajnr.A6036
PubMed 
31023660

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received November 26, 2018
  • Accepted after revision February 27, 2019
  • Published online April 25, 2019.

Article Versions

  • You are currently viewing a Latest version of this article (April 25, 2019 - 09:51).
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Copyright & Usage 
© 2019 by American Journal of Neuroradiology

Author Information

  1. L. Saint-Vala,
  2. T. Courtina,
  3. P. Charlesa,
  4. C. Vernyd,
  5. M. Catalac,e,
  6. R. Schiffmannf,
  7. O. Boespflug-Tanguyg and
  8. F. Mochela,b,h,i
  1. aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
  2. bReference Center for Adult Neurometabolic Diseases (F.M.)
  3. cDepartment of Neurology (M.C.), Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière University Hospital, Paris, France
  4. dDepartment of Neurology and Reference Center for Neurogenetic Diseases (C.V.), Angers University Hospital, Angers, France
  5. 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
  6. fBaylor Scott & White Research Institute (R.S.), Dallas, Texas
  7. gDepartment of Neuropediatrics and Reference Center for Leukodystrophy and Leukoencephalopathy (O.B.-T.), Assistance Publique–Hôpitaux de Paris, Robert-Debré University Hospital, Paris, France
  8. hGroupe de Recherche Clinique No. 13, Neurométabolisme (F.M.), Sorbonne Université, Paris, France
  9. 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.
  1. Please address correspondence to Fanny Mochel, MD, Reference Center for Adult Neurometabolic Diseases, Department of Genetics, La Pitié-Salpêtrière University Hospital, 47 Boulevard de l'Hǒpital 75013 Paris, France; e-mail: fanny.mochel{at}upmc.fr
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  • Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
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  • Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies
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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 Apr 2019, DOI: 10.3174/ajnr.A6036

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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 Apr 2019, DOI: 10.3174/ajnr.A6036
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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

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