Clinical features of CADASIL

Koji Abe, Tetsuro Murakami, Etsuro Matsubara, Yasuhiro Manabe, Isao Nagano, Mikio Shoji

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary disease characterized by recurrent transient ischemic attacks, strokes, and vascular dementia. Various mutations in the Notch3 gene cause the disease, whereas the mechanism of how they cause the disorder remains unknown. We recently identified two Japanese CADASIL families with an R141C mutation. The mean age of onset was 44.6, and the main symptoms were recurrent strokes and progressive motor disturbances in extremities, as well as pseudobulbar palsy. Besides those in white matter and basal ganglia, ischemic lesions in temporal edge and corpus callosum were present on magnetic resonance images, which seemed to be characteristic of CADASIL. Moreover, in our cases, nocturnal arterial blood pressure fall was significantly lower in patients compared with control subjects, suggesting that it might be partly associated with ischemic lesions in deep white matter in CADASIL. We also compared Japanese and Caucasian CADASIL cases and found that dementia and pseudobulbar palsy were observed more frequently in Japanese patients, although typical migraine was rather rare. In the present study, we describe the clinical features of CADASIL, hoping to help reveal the mechanism of chronic ischemic brain diseases, including leukoaraiosis or Binswanger's disease.

Original languageEnglish
Pages (from-to)266-272
Number of pages7
JournalAnnals of the New York Academy of Sciences
Volume977
Publication statusPublished - 2002

Fingerprint

CADASIL
Pseudobulbar Palsy
Vascular Dementia
Blood pressure
Magnetic resonance
Leukoaraiosis
Stroke
Brain
Mutation
Inborn Genetic Diseases
Genes
Corpus Callosum
Transient Ischemic Attack
Brain Diseases
Rare Diseases
Basal Ganglia
Migraine Disorders
Age of Onset
Dementia
Arterial Pressure

Keywords

  • CADASIL
  • Disease
  • Mutation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Abe, K., Murakami, T., Matsubara, E., Manabe, Y., Nagano, I., & Shoji, M. (2002). Clinical features of CADASIL. Annals of the New York Academy of Sciences, 977, 266-272.

Clinical features of CADASIL. / Abe, Koji; Murakami, Tetsuro; Matsubara, Etsuro; Manabe, Yasuhiro; Nagano, Isao; Shoji, Mikio.

In: Annals of the New York Academy of Sciences, Vol. 977, 2002, p. 266-272.

Research output: Contribution to journalArticle

Abe, K, Murakami, T, Matsubara, E, Manabe, Y, Nagano, I & Shoji, M 2002, 'Clinical features of CADASIL', Annals of the New York Academy of Sciences, vol. 977, pp. 266-272.
Abe K, Murakami T, Matsubara E, Manabe Y, Nagano I, Shoji M. Clinical features of CADASIL. Annals of the New York Academy of Sciences. 2002;977:266-272.
Abe, Koji ; Murakami, Tetsuro ; Matsubara, Etsuro ; Manabe, Yasuhiro ; Nagano, Isao ; Shoji, Mikio. / Clinical features of CADASIL. In: Annals of the New York Academy of Sciences. 2002 ; Vol. 977. pp. 266-272.
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