Familial deep cavitating state with a glutathione metabolism defect

Familial deep cavitating state with a glutathione metabolism defect

Abstract 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...

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Main Authors: John Rendu, Laetitia Van Noolen, Catherine Garrel, Julie Brocard, Isabelle Marty, Christelle Corne, Julien Fauré, Gérard Besson
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Annals of Clinical and Translational Neurology
Subjects:
NIT1
Online Access:https://doi.org/10.1002/acn3.50933
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spelling doaj-30b02148488d4e23af7aad50da979d9f2021-05-02T02:51:59ZengWileyAnnals of Clinical and Translational Neurology2328-95032019-12-016122573257810.1002/acn3.50933Familial deep cavitating state with a glutathione metabolism defectJohn Rendu0Laetitia Van Noolen1Catherine Garrel2Julie Brocard3Isabelle Marty4Christelle Corne5Julien Fauré6Gérard Besson7Univ. Grenoble Alpes Inserm U1216 CHU Grenoble Alpes Grenoble Institut Neurosciences 38000Grenoble FranceCHU Grenoble Alpes 38000Grenoble FranceCHU Grenoble Alpes 38000Grenoble FranceUniv. Grenoble Alpes Inserm U1216 Grenoble Institut des Neurosciences 38000Grenoble FranceUniv. Grenoble Alpes Inserm U1216 Grenoble Institut des Neurosciences 38000Grenoble FranceCHU Grenoble Alpes 38000Grenoble FranceUniv. Grenoble Alpes Inserm U1216 CHU Grenoble Alpes Grenoble Institut Neurosciences 38000Grenoble FranceDepartment of Neurology CHU Grenoble Alpes 38000Grenoble FranceAbstract 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.https://doi.org/10.1002/acn3.50933NIT1
collection DOAJ
language English
format Article
sources DOAJ
author John Rendu
Laetitia Van Noolen
Catherine Garrel
Julie Brocard
Isabelle Marty
Christelle Corne
Julien Fauré
Gérard Besson
spellingShingle John Rendu
Laetitia Van Noolen
Catherine Garrel
Julie Brocard
Isabelle Marty
Christelle Corne
Julien Fauré
Gérard Besson
Familial deep cavitating state with a glutathione metabolism defect
Annals of Clinical and Translational Neurology
NIT1
author_facet John Rendu
Laetitia Van Noolen
Catherine Garrel
Julie Brocard
Isabelle Marty
Christelle Corne
Julien Fauré
Gérard Besson
author_sort John Rendu
title Familial deep cavitating state with a glutathione metabolism defect
title_short 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_sort familial deep cavitating state with a glutathione metabolism defect
publisher Wiley
series Annals of Clinical and Translational Neurology
issn 2328-9503
publishDate 2019-12-01
description Abstract 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.
topic NIT1
url https://doi.org/10.1002/acn3.50933
work_keys_str_mv AT johnrendu familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT laetitiavannoolen familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT catherinegarrel familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT juliebrocard familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT isabellemarty familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT christellecorne familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT julienfaure familialdeepcavitatingstatewithaglutathionemetabolismdefect
AT gerardbesson familialdeepcavitatingstatewithaglutathionemetabolismdefect
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