論文

2021年3月8日

Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report.

Internal medicine (Tokyo, Japan)
  • Yuya Kano
  • ,
  • Ikuko Mizuta
  • ,
  • Akihiko Ueda
  • ,
  • Hiroaki Nozaki
  • ,
  • Keita Sakurai
  • ,
  • Osamu Onodera
  • ,
  • Yukio Ando
  • ,
  • Kentaro Yamada
  • ,
  • Hiroyuki Yuasa
  • ,
  • Toshiki Mizuno

60
15
開始ページ
2479
終了ページ
2482
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.2169/internalmedicine.6096-20

A 64-year-old Japanese man with recurrent cerebral ischemic events and cognitive impairment was suspected of having cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) because of a family history and brain magnetic resonance imaging findings of cerebral white matter hyperintensities. The cysteine-sparing variation p.Val237Met was identified in NOTCH3. An intensive skin biopsy showed negative results (no granular osmiophilic material or positive NOTCH3 immunostaining), suggesting that the patient's definite diagnosis and pathogenicity of p.Val237Met were uncertain. We additionally reviewed previous reports of two Japanese families with p.Val237Met.

リンク情報
DOI
https://doi.org/10.2169/internalmedicine.6096-20
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/33678736
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8381162
ID情報
  • DOI : 10.2169/internalmedicine.6096-20
  • PubMed ID : 33678736
  • PubMed Central 記事ID : PMC8381162

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