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

Yuya Kano; Ikuko Mizuta; Akihiko Ueda; Hiroaki Nozaki; Keita Sakurai; Osamu Onodera; Yukio Ando; Kentaro Yamada; Hiroyuki Yuasa; Toshiki Mizuno

doi:10.2169/internalmedicine.6096-20

CASE REPORTS

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

Yuya Kano, Ikuko Mizuta, Akihiko Ueda, Hiroaki Nozaki, Keita Sakurai, Osamu Onodera, Yukio Ando, Kentaro Yamada, Hiroyuki Yuasa, Toshiki Mizuno

Author information

Yuya Kano
Department of Neurology, Tosei General Hospital, Japan
Department of Neurology, Nagoya City East Medical Center, Japan
Ikuko Mizuta
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan
Akihiko Ueda
Department of Neurology, Graduate School of Medical Science, Kumamoto University, Japan
Hiroaki Nozaki
Department of Neurology, Brain Research Institute, Niigata University, Japan
Keita Sakurai
Department of Radiology, National Center for Geriatrics and Gerontology, Japan
Osamu Onodera
Department of Neurology, Brain Research Institute, Niigata University, Japan
Yukio Ando
Department of Neurology, Graduate School of Medical Science, Kumamoto University, Japan
Department of Amyloidosis Research, Nagasaki International University, Japan
Kentaro Yamada
Department of Neurology, Nagoya City East Medical Center, Japan
Hiroyuki Yuasa
Department of Neurology, Tosei General Hospital, Japan
Toshiki Mizuno
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan

Keywords: cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL), p.Val237Met, granular osmiophilic material (GOM), pathogenicity

JOURNAL OPEN ACCESS

2021 Volume 60 Issue 15 Pages 2479-2482

DOI https://doi.org/10.2169/internalmedicine.6096-20

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Abstract

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.

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