Hereditary cerebral small vessel diseases: a review

J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4.

Abstract

Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic stroke and diffuse white matter disease leading to vascular dementia. Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed. Albeit with variable phenotypes and with different defective genes, all these disorders produce arteriopathy and microvascular disintegration with changes in brain functions. Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alopecia / diagnosis
  • Alopecia / genetics
  • CADASIL / diagnosis
  • CADASIL / genetics
  • Cerebral Infarction / diagnosis
  • Cerebral Infarction / genetics
  • Cerebral Small Vessel Diseases / classification
  • Cerebral Small Vessel Diseases / diagnosis
  • Cerebral Small Vessel Diseases / genetics*
  • Collagen Type IV / genetics*
  • Exodeoxyribonucleases / genetics
  • Fabry Disease / genetics
  • High-Temperature Requirement A Serine Peptidase 1
  • Humans
  • Leukoencephalopathies / diagnosis
  • Leukoencephalopathies / genetics
  • Leukoencephalopathy, Progressive Multifocal / genetics
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Phosphoproteins / genetics
  • Receptor, Notch3
  • Receptors, Notch / genetics
  • Serine Endopeptidases / genetics
  • Spinal Diseases / diagnosis
  • Spinal Diseases / genetics

Substances

  • COL4A1 protein, human
  • Collagen Type IV
  • NOTCH3 protein, human
  • Phosphoproteins
  • Receptor, Notch3
  • Receptors, Notch
  • Exodeoxyribonucleases
  • three prime repair exonuclease 1
  • High-Temperature Requirement A Serine Peptidase 1
  • HtrA1 protein, human
  • Serine Endopeptidases

Supplementary concepts

  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy