Related Experiment Video

Updated: Oct 16, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

[Clinical, radiological, histopathological and genetic findings in a Danish "CADASIL" family]

M N Binzer1, L Brattström, P Ottosen

  • 1MBI@ribeamt.dk

Ugeskrift for Laeger
|April 15, 2000
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder. A Notch 3 gene mutation was identified in a Danish family, expanding knowledge of this inherited arterial disease.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, inherited arterial disease.
  • Often misdiagnosed due to late onset and varied symptoms.
  • CADASIL is linked to mutations in the Notch 3 gene on chromosome 19q12.

Observation:

  • Presents clinical, pathological, radiological, and genetic findings from the first Danish CADASIL pedigree.
  • Detailed examination of a specific family with the condition.

Findings:

  • Genetic testing confirmed a Notch 3 mutation in the Danish family.
  • The mutation involved a specific nucleotide substitution (position 475), altering an amino acid (arginine to cysteine at position 133) in the third EGF motif.

Implications:

  • Contributes to understanding the phenotypic spectrum of CADASIL.
  • Highlights the importance of genetic testing for accurate CADASIL diagnosis.
  • Provides valuable data for future research into CADASIL pathogenesis and treatment.

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