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.

中文翻译：

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家族性深空化状态，具有谷胱甘肽代谢缺陷。

导致脑部损伤的成年遗传性疾病大多被描述为白质消失疾病。我们在这里介绍在转诊为精神疾病的患者中进行的检查，并通过磁共振成像显示不典型的基底神经节病变。该家族的遗传探索揭示了一种与谷胱甘肽代谢有关的新的遗传性疾病。