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Related Experiment Videos

Incipient CADASIL.

Saskia A J Lesnik Oberstein1, Rivka van den Boom, Huub A M Middelkoop

  • 1Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. S.A.M.J.Lesnik_Oberstein@lumc.nl

Archives of Neurology
|May 21, 2003
PubMed
Summary
This summary is machine-generated.

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Young adults with NOTCH3 gene mutations, carriers of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), may experience migraine and stroke, but maintain intact cognition and function.

Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder caused by NOTCH3 gene mutations.
  • Limited data exists on the early clinical presentation of NOTCH3 mutation carriers (MCs) under 35 years old.

Purpose of the Study:

  • To investigate the clinical, neuropsychological, and radiological characteristics of young adult NOTCH3 MCs.
  • To compare the status of MCs with non-mutation carriers (non-MCs) under 35 years.

Main Methods:

  • Study included 13 individuals under 35 with a 50% risk of NOTCH3 mutation from a CADASIL database.
  • Utilized comprehensive clinical, genetic, neuropsychological, and radiological assessments.
  • Magnetic resonance imaging (MRI) analyzed for white matter hyperintensities using a standardized scale.

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Main Results:

  • Six individuals (from 5 families) were identified as NOTCH3 MCs.
  • Clinical symptoms in MCs included migraine with aura and stroke-like episodes; no significant psychiatric, functional, or cognitive deficits were observed compared to non-MCs.
  • Characteristic MRI findings in MCs revealed white matter hyperintensities in specific brain regions, visible from age 21.

Conclusions:

  • Migraine and stroke can manifest in young adults with NOTCH3 mutations, but cognitive and physical functions remain intact.
  • Characteristic white matter hyperintensities on MRI are a key diagnostic indicator in young CADASIL patients.
  • Early diagnosis through awareness of these features can facilitate timely genetic counseling for families affected by CADASIL.