CARASIL families from India with 3 novel null mutations in the HTRA1 gene

Neurology. 2017 Dec 5;89(23):2392-2394. doi: 10.1212/WNL.0000000000004710. Epub 2017 Nov 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alopecia / diagnostic imaging
  • Alopecia / genetics*
  • Cerebral Infarction / diagnostic imaging
  • Cerebral Infarction / genetics*
  • Female
  • High-Temperature Requirement A Serine Peptidase 1 / genetics*
  • Humans
  • India
  • Leukoencephalopathies / diagnostic imaging
  • Leukoencephalopathies / genetics*
  • Loss of Function Mutation / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Spinal Diseases / diagnostic imaging
  • Spinal Diseases / genetics*
  • Young Adult

Substances

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

Supplementary concepts

  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy