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
Descripción
Sumario: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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