Familial deep cavitating state with a glutathione metabolism defect

Ann Clin Transl Neurol. 2019 Dec;6(12):2573-2578. doi: 10.1002/acn3.50933. Epub 2019 Nov 9.


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.

Keywords: NIT1.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basal Ganglia Diseases* / etiology
  • Basal Ganglia Diseases* / genetics
  • Basal Ganglia Diseases* / metabolism
  • Basal Ganglia Diseases* / pathology
  • Brain Diseases, Metabolic, Inborn* / complications
  • Brain Diseases, Metabolic, Inborn* / genetics
  • Brain Diseases, Metabolic, Inborn* / metabolism
  • Brain Diseases, Metabolic, Inborn* / pathology
  • Glutathione / metabolism*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged


  • Glutathione