A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation

Gunduz T., Demirkol Y., Dogan O., Demir S., Akcakaya N. H.

JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, vol.28, no.11, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 11
  • Publication Date: 2019
  • Doi Number: 10.1016/j.jstrokecerebrovasdis.2019.104354
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: HTRA1, CARASIL, leukoencephalopathy, small vessel disease, lacunar infarcts, AUTOSOMAL RECESSIVE ARTERIOPATHY, SUBCORTICAL INFARCTS, FEATURES, CARASIL
  • Istanbul University Affiliated: No


Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a heritable, rare small vessel disease, which is caused by HTRA1 mutations and mostly reported Japanese and Chinese population. CARASIL is an orphan disease, which presents with progressive motor and cognitive impairment, alopecia, and spondylosis. The disease typically starts with lumbago at early twenties. Ischemic strokes start at mid-twenties. Patients have no cardiovascular or any other risk factors. Multiple lacunar infarcts and leukoencephalopathy cause progressive neurologic involvement. Leukoencephalopathy and small vessel disease without any risk factors is a significant finding for the differential diagnosis of HTRA1 gene pathology. This report presents clinical and genetic features of a rare case of typical CARASIL from Turkey who was followed with uncertain diagnoses for years.