Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease

Ann Neurol. 1996 Jul;40(1):116-9. doi: 10.1002/ana.410400119.


A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms, and two unique mutations.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Brain / physiopathology
  • Galactosylceramidase / deficiency*
  • Gene Expression
  • Humans
  • Leukodystrophy, Globoid Cell / genetics*
  • Leukodystrophy, Globoid Cell / physiopathology
  • Male
  • Middle Aged
  • Point Mutation*
  • Polymorphism, Genetic / genetics
  • RNA, Messenger


  • RNA, Messenger
  • Galactosylceramidase