A family history must be taken in younger-onset stroke, migraine and dementia patients to correctly identify familial stroke syndromes such as CADASIL and CARASIL
(cerebral autosomal recessive arteriopathy with subcortical infarcts and leucoencephalopathy, or Maede syndrome).
Hereditary cerebral amyloid angiopathy is caused by COL4A1/COL4A2 mutation (7,8), and CARASIL by the high temperature requirement protease A1 HTRA1 allele mutations, which is also called HTRA1 homozygous mutations (9-13).
It is commonly recognized that the CARASIL disease is caused by the mutation of the HTRA1 allele, whereas heterozygous mutations are not pathogenic (17).
A novel mutation in the HTRA1 gene causes CARASIL without alopecia.
A Novel Mutation in the HTRA1 Gene Identified in Chinese CARASIL Pedigree.
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).