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Nakamura K, Ago T, Tsuchimoto A, et al. A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles. Case Rep Neurol Med. 2015;2015:431461doi: 10.1155/2015/431461.
Nakamura, K., Ago, T., Tsuchimoto, A., Noda, N., Nakamura, A., Ninomiya, T., Uchiumi, T., Tsuruya, K., Kamouchi, M., Ooboshi, H., & Kitazono, T. (2015). A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles. Case reports in neurological medicine, 2015431461. https://doi.org/10.1155/2015/431461
Nakamura, Kuniyuki, et al. "A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles." Case reports in neurological medicine vol. 2015 (2015): 431461. doi: https://doi.org/10.1155/2015/431461
Nakamura K, Ago T, Tsuchimoto A, Noda N, Nakamura A, Ninomiya T, Uchiumi T, Tsuruya K, Kamouchi M, Ooboshi H, Kitazono T. A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles. Case Rep Neurol Med. 2015;2015:431461. doi: 10.1155/2015/431461. Epub 2015 Mar 09. PMID: 25834748; PMCID: PMC4365362.
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Case Rep Neurol Med. 2015;2015:431461. doi: 10.1155/2015/431461. Epub 2015 Mar 09.

A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles.

Case reports in neurological medicine

Kuniyuki Nakamura, Tetsuro Ago, Akihiro Tsuchimoto, Nozomi Noda, Asako Nakamura, Toshiharu Ninomiya, Takeshi Uchiumi, Kazuhiko Tsuruya, Masahiro Kamouchi, Hiroaki Ooboshi, Takanari Kitazono

Affiliations

  1. Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan ; Department of Internal Medicine, Fukuoka Dental College Medical and Dental Hospital, Fukuoka 814-0193, Japan.
  2. Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
  3. Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
  4. Department of Internal Medicine, Fukuoka Dental College Medical and Dental Hospital, Fukuoka 814-0193, Japan.

PMID: 25834748 PMCID: PMC4365362 DOI: 10.1155/2015/431461

Abstract

We herein report the finding of a 62-year-old male, who developed dysarthria and dysphagia, with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy- (CADASIL-) like cerebral lesions. He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. The noncysteine substitution may underlie the pathogenesis of white matter lesions in the brain and of the chronic renal failure in the present case.

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