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The spectrum of mutations for CADASIL diagnosis

A Federico1, S Bianchi, M T Dotti

  • 1Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, I-53100 Siena, Italy. federico@unisi.it

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|July 5, 2005
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), caused by Notch3 gene mutations, presents with stroke, cognitive decline, and migraines. This update reviews Notch3 mutations and disease pathogenesis, highlighting that CADASIL is likely underdiagnosed.

Area of Science:

  • Neuroscience
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic cerebrovascular disorder.
  • It is caused by mutations in the Notch3 gene located at chromosome 19p13.
  • Clinical manifestations include recurrent ischemic strokes, cognitive impairment, migraines, and psychiatric issues.

Purpose of the Study:

  • To provide an updated review of Notch3 gene mutations associated with CADASIL.
  • To discuss the current understanding of CADASIL pathogenesis.
  • To emphasize the likely underdiagnosis of this inherited condition.

Main Methods:

  • Review of scientific literature on CADASIL and Notch3 gene mutations.
  • Analysis of clinical, histopathological, and imaging findings in CADASIL patients.
  • Genetic analysis of affected individuals and families.

Main Results:

  • CADASIL is characterized by Notch3 gene mutations and the accumulation of granular osmiophilic material (GOM) in arteriolar walls.
  • Magnetic Resonance Imaging (MRI) typically shows extensive white matter lesions and subcortical infarcts.
  • Increasing identification of affected families suggests CADASIL is underdiagnosed.

Conclusions:

  • Notch3 mutations are the primary cause of CADASIL, a significant inherited cerebrovascular disease.
  • Understanding the pathogenesis of CADASIL is crucial for potential therapeutic strategies.
  • Increased awareness and diagnostic efforts are needed to address the underdiagnosis of CADASIL.

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