New biallelic GBA2 variant in a patient with SPG46

Clin Neurol Neurosurg. 2020 Apr:191:105676. doi: 10.1016/j.clineuro.2020.105676. Epub 2020 Jan 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Agenesis of Corpus Callosum / diagnostic imaging
  • Alleles
  • Female
  • Glucosylceramidase / genetics*
  • Homozygote
  • Humans
  • Learning Disabilities / physiopathology
  • Mutation, Missense
  • Spastic Paraplegia, Hereditary / diagnostic imaging
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology
  • Young Adult

Substances

  • GBA2 protein, human
  • Glucosylceramidase