Heterozygous Cysteine-sparing <i>NOTCH3</i> Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy-Reference-Cited by-同舟云学术

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

Published:2021-08-01 Issue:15 Volume:60 Page:2479-2482
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Kano Yuya¹,Mizuta Ikuko²,Ueda Akihiko³,Nozaki Hiroaki⁴,Sakurai Keita⁵,Onodera Osamu⁴,Ando Yukio³,Yamada Kentaro⁶,Yuasa Hiroyuki¹,Mizuno Toshiki²

Affiliation:

1. Department of Neurology, Tosei General Hospital, Japan

2. Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Japan

3. Department of Neurology, Graduate School of Medical Science, Kumamoto University, Japan

4. Department of Neurology, Brain Research Institute, Niigata University, Japan

5. Department of Radiology, National Center for Geriatrics and Gerontology, Japan

6. Department of Neurology, Nagoya City East Medical Center, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/60/15/60_6096-20/_pdf

Reference17 articles.

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2. 2. Chabriat H, Joutel A, Tournier-Lasserve E, Bousser MG. CADASIL: yesterday, today, tomorrow. Eur J Neurol 27: 1588-1595, 2020.

3. 3. Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn 14: 593-603, 2014.

4. 4. Mizuno T, Mizuta I, Watanabe-Hosomi A, Mukai M, Koizumi T. Clinical and genetic aspects of CADASIL. Front Aging Neurosci 12: 91, 2020.

5. 5. Mancuso M, Arnold M, Bersano A, et al. Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. Eur J Neurol 27: 909-927, 2020.

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1. Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review;International Journal of Molecular Sciences;2024-08-13