Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL

Neurology. 2002 Aug 27;59(4):617-20. doi: 10.1212/wnl.59.4.617.

Abstract

Three siblings with genetically assessed cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with core-like lesions and mitochondrial abnormalities in muscles are described. Involvement of the Ryanodine receptor 1 gene was excluded. In the current cases, the relation between molecular genetic lesion and muscle fiber abnormalities remains to be determined, but the Notch3 gene may influence mitochondrial metabolism.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Dementia, Multi-Infarct / blood
  • Dementia, Multi-Infarct / genetics
  • Dementia, Multi-Infarct / pathology*
  • Female
  • Genes, Dominant
  • Genetic Markers
  • Genotype
  • Humans
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Male
  • Middle Aged
  • Mitochondria, Muscle / pathology*
  • Mitochondria, Muscle / ultrastructure
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / ultrastructure
  • Mutation, Missense
  • Pedigree
  • Proto-Oncogene Proteins / genetics
  • Receptor, Notch3
  • Receptors, Cell Surface*
  • Receptors, Notch
  • Ryanodine Receptor Calcium Release Channel / genetics

Substances

  • Genetic Markers
  • NOTCH3 protein, human
  • Proto-Oncogene Proteins
  • Receptor, Notch3
  • Receptors, Cell Surface
  • Receptors, Notch
  • Ryanodine Receptor Calcium Release Channel
  • Creatine Kinase