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Assessment of Vascular Regeneration in the CNS Using the Mouse Retina
07:32

Assessment of Vascular Regeneration in the CNS Using the Mouse Retina

Published on: June 23, 2014

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Neuropathology and genetics of cerebroretinal vasculopathies

Grant R Kolar1, Parul H Kothari, Negar Khanlou

  • 1Department of Pathology, Saint Louis University School of Medicine, St. Louis, MO.

Brain Pathology (Zurich, Switzerland)
|October 18, 2014
PubMed

Insights

Cerebroretinal vasculopathy (CRV) and related disorders are caused by TREX1 gene mutations, leading to systemic vasculopathy with neurological and ophthalmologic symptoms. These autosomal-dominant conditions typically progress over five years, resulting in death from neurological decline.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Cerebroretinal vasculopathy (CRV) and related disorders (HERNS, HVR, HSA, collectively RVCL) are severe autosomal-dominant conditions.
  • These diseases manifest with neurological and ophthalmologic symptoms in early to middle age.

Purpose of the Study:

  • To investigate the genetic basis and pathological features of CRV and related disorders.
  • To understand the mechanism linking TREX1 mutations to systemic vasculopathy.

Main Methods:

  • Genetic analysis focusing on mutations in the TREX1 gene.
  • Neuropathological examination of affected individuals.
  • Ultrastructural studies of blood vessel walls.

Main Results:

  • Frameshift mutations in the carboxyl-terminus of the TREX1 gene are identified as the cause.
  • The condition results in systemic vasculopathy with a characteristic 5-year course leading to death.
  • Neuropathology reveals fibrinoid vascular necrosis, white matter ischemia, and dystrophic calcifications.
  • Ultrastructural findings include unusual multilaminated basement membranes in vessel walls.

Conclusions:

  • TREX1 mutations are the underlying cause of CRV and related vasculopathies.
  • These genetic defects lead to a progressive and often fatal systemic vascular disease affecting the brain and eyes.

Keywords:
CRVHERNSand strokecerebral microvascular diseasehereditary endotheliopathy with retinopathyhereditary vascular retinopathynephropathyocular microvascular disease

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