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[Hereditary cerebral small-vessel disease]

Hiroaki Nozaki1, Masatoyo Nishizawa, Osamu Onodera

  • 1School of Health Science, Faculty of Medicine, Niigata University.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|May 2, 2013
PubMed

Insights

Cerebral small vessel disease (CSVD) affects brain blood vessels, causing stroke and dementia. This review explores CSVD

Area of Science:

  • Neurology and Genetics
  • Vascular Biology
  • Neurodegenerative Diseases

Context:

  • Cerebral small vessel disease (CSVD) encompasses pathological conditions affecting intracranial small vessels.
  • CSVD is a common aging phenomenon linked to lacunar infarction, white matter disease, hemorrhage, dementia, and motor disability.
  • The molecular pathogenesis of CSVD remains poorly understood, particularly concerning genetic factors.

Purpose:

  • To review the clinical spectrum, pathological findings, and molecular pathogenesis of CSVD.
  • To focus on CSVD subtypes resulting from single gene defects.
  • To elucidate the genetic underpinnings of CSVD for improved understanding and potential therapeutic targets.

Summary:

  • This review examines CSVD, a condition affecting small brain vessels and contributing to neurological deficits.
  • It details specific genetic disorders associated with CSVD, including CADASIL, CARASIL, COL4A1-related disorders, RVCL, Fabry disease, and hCA.
  • The molecular mechanisms underlying these single-gene CSVD forms are discussed, highlighting their contribution to disease pathology.

Impact:

  • Provides a comprehensive overview of genetically determined CSVD forms.
  • Enhances understanding of the molecular basis of CSVD, potentially guiding future research.
  • Informs clinical diagnosis and management strategies for patients with inherited cerebrovascular disorders.

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