A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient

J Neurol. 2015 May;262(5):1369-72. doi: 10.1007/s00415-015-7769-5. Epub 2015 May 10.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alopecia / diagnosis*
  • Alopecia / genetics*
  • Cerebral Infarction / diagnosis*
  • Cerebral Infarction / genetics*
  • Exons / genetics*
  • Female
  • High-Temperature Requirement A Serine Peptidase 1
  • Humans
  • Leukoencephalopathies / diagnosis*
  • Leukoencephalopathies / genetics*
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Pakistan
  • Peptide Hydrolases / metabolism*
  • Serine Endopeptidases / genetics*
  • Spinal Diseases / diagnosis*
  • Spinal Diseases / genetics*

Substances

  • Peptide Hydrolases
  • High-Temperature Requirement A Serine Peptidase 1
  • HTRA1 protein, human
  • Serine Endopeptidases

Supplementary concepts

  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy