Familial deep cavitating state with a glutathione metabolism defect

Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance imaging showing atypical basal ganglia lesions. Genetic explorations of this...

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Detalles Bibliográficos
Autores principales: Rendu, John, Van Noolen, Laetitia, Garrel, Catherine, Brocard, Julie, Marty, Isabelle, Corne, Christelle, Fauré, Julien, Besson, Gérard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917305/
https://www.ncbi.nlm.nih.gov/pubmed/31705625
http://dx.doi.org/10.1002/acn3.50933
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author Rendu, John
Van Noolen, Laetitia
Garrel, Catherine
Brocard, Julie
Marty, Isabelle
Corne, Christelle
Fauré, Julien
Besson, Gérard
author_facet Rendu, John
Van Noolen, Laetitia
Garrel, Catherine
Brocard, Julie
Marty, Isabelle
Corne, Christelle
Fauré, Julien
Besson, Gérard
author_sort Rendu, John
collection PubMed
description Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance imaging showing atypical basal ganglia lesions. Genetic explorations of this family revealed a new hereditary disease linked to glutathione metabolism.
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spelling pubmed-69173052019-12-23 Familial deep cavitating state with a glutathione metabolism defect Rendu, John Van Noolen, Laetitia Garrel, Catherine Brocard, Julie Marty, Isabelle Corne, Christelle Fauré, Julien Besson, Gérard Ann Clin Transl Neurol Brief Communications Adult genetic disorders causing brain lesions have been mostly described as white matter vanishing diseases. We present here the investigations realized in patients referred for psychiatric disorder with magnetic resonance imaging showing atypical basal ganglia lesions. Genetic explorations of this family revealed a new hereditary disease linked to glutathione metabolism. John Wiley and Sons Inc. 2019-11-09 /pmc/articles/PMC6917305/ /pubmed/31705625 http://dx.doi.org/10.1002/acn3.50933 Text en © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Rendu, John
Van Noolen, Laetitia
Garrel, Catherine
Brocard, Julie
Marty, Isabelle
Corne, Christelle
Fauré, Julien
Besson, Gérard
Familial deep cavitating state with a glutathione metabolism defect
title Familial deep cavitating state with a glutathione metabolism defect
title_full Familial deep cavitating state with a glutathione metabolism defect
title_fullStr Familial deep cavitating state with a glutathione metabolism defect
title_full_unstemmed Familial deep cavitating state with a glutathione metabolism defect
title_short Familial deep cavitating state with a glutathione metabolism defect
title_sort familial deep cavitating state with a glutathione metabolism defect
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917305/
https://www.ncbi.nlm.nih.gov/pubmed/31705625
http://dx.doi.org/10.1002/acn3.50933
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