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Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation

  • Jinseok Park (Department of Neurology, Hanyang University Hospital, Hanyang University College of Medicine) ;
  • Sanggon Lee (Department of Neurology, Hanyang University Hospital, Hanyang University College of Medicine) ;
  • Heerah Lee (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Jee Soo Lee (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Moon-Woo Seong (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) ;
  • Hee-Jin Kim (Department of Neurology, Hanyang University Hospital, Hanyang University College of Medicine)
  • Received : 2022.10.21
  • Accepted : 2022.10.28
  • Published : 2022.10.31

Abstract

Keywords

References

  1. Mohn A, Polidori N, Aiello C, Rizzo C, Giannini C, Chiarelli F, et al. ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series. Endocrinol Diabetes Metab Case Rep 2021;2021:20-0125. 
  2. Kemp S, Berger J, Aubourg P. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta 2012;1822:1465-1474. 
  3. Kohler W, Curiel J, Vanderver A. Adulthood leukodystrophies. Nat Rev Neurol 2018;14:94-105. 
  4. Tsuji S. 4. Leukodystrophies. In: Gilman S, editor. Neurobiology of Disease. Cambridge: Academic Press, 2007;43-49.
  5. Volmrich AM, Cuenant LM, Forghani I, Hsieh SL, Shapiro LT. ABCD1 gene mutations: mechanisms and management of adrenomyeloneuropathy. Appl Clin Genet 2022;15:111-123. 
  6. Schmidt BJ, Greenberg CR, Allingham-Hawkins DJ, Spriggs EL. Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women. Neurology 2002;59:770-772.