Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy

Neurol Sci. 2017 Sep;38(9):1721-1722. doi: 10.1007/s10072-017-2986-6. Epub 2017 May 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Galactosylceramidase / genetics*
  • Humans
  • Iran
  • Leukoencephalopathies / complications
  • Leukoencephalopathies / genetics*
  • Paraparesis, Spastic / complications
  • Paraparesis, Spastic / genetics*
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics*
  • Young Adult

Substances

  • Galactosylceramidase