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

J Stroke Cerebrovasc Dis. 2019 Nov;28(11):104354. doi: 10.1016/j.jstrokecerebrovasdis.2019.104354. Epub 2019 Sep 5.

Abstract

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.

Keywords: CARASIL; HTRA1; lacunar infarcts; leukoencephalopathy; small vessel disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alopecia / diagnostic imaging
  • Alopecia / genetics*
  • Alopecia / physiopathology
  • Alopecia / psychology
  • Cerebral Infarction / diagnostic imaging
  • Cerebral Infarction / genetics*
  • Cerebral Infarction / physiopathology
  • Cerebral Infarction / psychology
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Heterozygote*
  • High-Temperature Requirement A Serine Peptidase 1 / genetics*
  • Humans
  • Leukoencephalopathies / diagnostic imaging
  • Leukoencephalopathies / genetics*
  • Leukoencephalopathies / physiopathology
  • Leukoencephalopathies / psychology
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Phenotype
  • Risk Factors
  • Spinal Diseases / diagnostic imaging
  • Spinal Diseases / genetics*
  • Spinal Diseases / physiopathology
  • Spinal Diseases / psychology

Substances

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

Supplementary concepts

  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy