CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations

Tomohiko Nakamura, Hirohisa Watanabe, Masaaki Hirayama, Akira Inukai, Hidehiro Kabasawa, Michitaka Matsubara, Shigehisa Mitake, Masaaki Nakamura, Yukio Ando, Makoto Uchino, Gen Sobue

研究成果: Article査読

10 被引用数 (Scopus)

抄録

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese CADASIL family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in CADASIL.

本文言語English
ページ(範囲)87-91
ページ数5
ジャーナルJournal of the Neurological Sciences
238
1-2
DOI
出版ステータスPublished - 15-11-2005
外部発表はい

All Science Journal Classification (ASJC) codes

  • 神経学
  • 臨床神経学

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