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A novel heterozygous mutation in the NOTCH3 gene causing CADASIL

Elisabeth Andreadou1, Ggeorge Papadimas, Constantinos Sfagos

  • 1Department of Neurology, Athens General Hospital G. Gennimatas, Athens, Greece. eandread@med.uoa.gr

Swiss Medical Weekly
|October 23, 2008
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a genetic stroke disorder, is linked to NOTCH3 gene mutations. A new mutation, C162R, was identified in a patient, highlighting potential misdiagnosis with multiple sclerosis.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder causing inherited strokes in young adults.
  • It is characterized by leukoencephalopathy, particularly affecting temporal poles and external capsule, and is caused by NOTCH3 gene mutations.

Observation:

  • A 40-year-old patient presented with clinical and familial features suggestive of CADASIL.
  • This patient was found to carry a novel NOTCH3 gene mutation, C162R, in exon 4.
  • One sibling with similar features was misdiagnosed with multiple sclerosis (MS).

Findings:

  • The study identifies a new mutation (C162R) in the NOTCH3 gene associated with CADASIL.
  • The findings underscore the progressive nature of CADASIL, leading to stroke, dementia, and premature death.

Implications:

  • This discovery expands the known spectrum of NOTCH3 mutations linked to CADASIL.
  • It emphasizes the importance of considering CADASIL in young adults with unexplained strokes and leukoencephalopathy.
  • The case highlights the potential for misdiagnosis of CADASIL as multiple sclerosis due to overlapping clinical and neuroimaging features.

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