Kliniske, radiologiske, histopatologiske samt genetiske fund i en dansk "CADASIL"-familie

M N Binzer, L Brattström, P Ottosen, H Videbaek, E Stenager

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare adult-onset inherited arterial disease with a distinctive neuropathological phenotype. Owing to its recent identification and variable mode of presentation, the disease is often misdiagnosed. The CADASIL gene is Notch 3 and has been mapped on chromosome 19q12 in several unrelated families. Knowledge of the phenotypic range of CADASIL, however, remains incomplete. Clinical, pathological radiological, and genetic findings in the first known Danish CADASIL pedigree are presented. Genetic testing confirmed a Notch 3 mutation. The mutation consisted of the substitution of a nucleotide at position 475 leading to the replacement of amino acid arginine for cysteine at position 133 in the third EGF motif.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind162
Udgave nummer12
Sider (fra-til)1739-42
Antal sider4
ISSN0041-5782
StatusUdgivet - 20. mar. 2000

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Emneord

  • Adult
  • Basement Membrane
  • Brain
  • Chromosomes, Human, 19-20
  • Dementia, Multi-Infarct
  • Denmark
  • Female
  • Genetic Techniques
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype

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