Scholarlink

<p>Hereditary cerebral small vessel diseases (CSVDs) include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) caused by <i>NOTCH3</i>, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy caused by biallelic <i>HTRA1</i>, and heterozygous <i>HTRA1</i>-related CSVD. Here we report a case of a 53-year-old Japanese woman with coexisting <i>NOTCH3</i> p.R75P and <i>HTRA1</i> p.R166L mutations, each in the heterozygote. She presented with early-onset spastic paraparesis, frequent urination, cognitive impairment and baldness. We compared the clinical features of this case with known phenotypes of CADASIL caused by p.R75P, <i>HTRA1</i>-related CSVD. We reported cases with heterozygous <i>HTRA1</i> p.R166L to discuss the potential synergistic effects of the coexisting variants.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A case of coexisting heterozygous NOTCH3 and HTRA1 mutations in cerebral small vessel disease

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年7月9日

查看全文
  • Masataka Yamashiro,
  • Daigo Yasutomi,
  • Yuichiro Ohya,
  • Satoshi Ohyama,
  • Hiroshi Takashima,
  • Takashi Tokashiki

摘要

Hereditary cerebral small vessel diseases (CSVDs) include cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) caused by NOTCH3, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy caused by biallelic HTRA1, and heterozygous HTRA1-related CSVD. Here we report a case of a 53-year-old Japanese woman with coexisting NOTCH3 p.R75P and HTRA1 p.R166L mutations, each in the heterozygote. She presented with early-onset spastic paraparesis, frequent urination, cognitive impairment and baldness. We compared the clinical features of this case with known phenotypes of CADASIL caused by p.R75P, HTRA1-related CSVD. We reported cases with heterozygous HTRA1 p.R166L to discuss the potential synergistic effects of the coexisting variants.