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Related Experiment Videos

Clinical Features of CADASIL.

Koji Abe1, Tetsuro Murakami, Etsuro Matsubara

  • 1Department of Neurology, Okayama University Graduate School of Medicine and Dentistry, 2-5-1 Shikata-cho, Okayama 700-8558, Japan. neuron@cc.okayama-u.ac.jp

Annals of the New York Academy of Sciences
|December 14, 2002
PubMed
Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder. This study details clinical features in Japanese families, noting unique lesion patterns and lower nocturnal blood pressure fall, potentially aiding understanding of chronic ischemic brain diseases.

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Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebrovascular disorder.
  • Mutations in the Notch3 gene are causative, but disease mechanisms remain unclear.
  • Previous studies have focused on Caucasian populations, with limited data on Japanese CADASIL cases.

Purpose of the Study:

  • To describe the clinical features of two Japanese CADASIL families with the R141C mutation.
  • To investigate potential associations between clinical manifestations and neuroimaging findings.
  • To compare clinical characteristics between Japanese and Caucasian CADASIL patients.

Main Methods:

  • Clinical assessment of patients from two Japanese families with confirmed R141C Notch3 mutation.

Related Experiment Videos

  • Magnetic resonance imaging (MRI) to evaluate ischemic lesions.
  • Comparison of clinical data with previously reported Caucasian CADASIL cases.

    • Main Results:

    • Mean age of onset was 44.6 years, with recurrent strokes and motor disturbances as primary symptoms.
    • Characteristic ischemic lesions were observed in white matter, basal ganglia, temporal lobe, and corpus callosum.
    • Japanese patients showed higher frequencies of dementia and pseudobulbar palsy compared to Caucasian counterparts, with less frequent typical migraines.
    • Lower nocturnal arterial blood pressure fall was noted in patients, potentially linked to deep white matter lesions.

    Conclusions:

    • The R141C mutation presents distinct clinical and neuroimaging features in Japanese CADASIL patients.
    • Nocturnal hypotension may contribute to deep white matter ischemic lesions in CADASIL.
    • Understanding these variations can advance the study of CADASIL and other chronic ischemic brain diseases like leukoaraiosis.