Open AccessFamilial deep cavitating state with a glutathione metabolism defect
Author(s) -
Rendu John,
Van Noolen Laetitia,
Garrel Catherine,
Brocard Julie,
Marty Isabelle,
Corne Christelle,
Fauré Julien,
Besson Gérard
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50933
Subject(s) - medicine , glutathione , white matter , basal ganglia , magnetic resonance imaging , disease , pathology , genetic disorder , genetic testing , radiology , central nervous system , biochemistry , biology , enzyme
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.