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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)

Rhea Yy Tan1, Anna M Drazyk2, Kathryn Urankar3

  • 1Clinical Neurosciences, University of Cambridge, Cambridge, UK tan.rhea@gmail.com.

Practical Neurology
|August 26, 2021
PubMed

Insights

A rare genetic mutation, HTRA1, was identified as the cause of a progressive neurological disorder characterized by seizures and cognitive decline. This finding retrospectively diagnosed the condition as cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cerebral small vessel disease can lead to severe neurological deficits.
  • Leukoencephalopathies of uncertain cause present diagnostic challenges.

Observation:

  • A 44-year-old man presented with seizures and cognitive impairment, exhibiting retinal drusen and brain MRI findings suggestive of cerebral small vessel disease.
  • Postmortem examination revealed widespread small vessel changes in the brain.

Findings:

  • Whole-genome sequencing identified a homozygous nonsense HTRA1 mutation (p.Arg302Ter).
  • This genetic finding provided a retrospective diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).

Implications:

  • Identifies a specific genetic cause for a previously undiagnosed leukoencephalopathy.
  • Highlights the utility of whole-genome sequencing in diagnosing rare neurological disorders.
  • Advances understanding of the genetic basis of cerebral small vessel diseases.

Keywords:
CADASILgeneticsneuroophthalmologyneuropathologystroke

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