A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles
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 g...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/431461 |
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| author | Kuniyuki Nakamura Tetsuro Ago Akihiro Tsuchimoto Nozomi Noda Asako Nakamura Toshiharu Ninomiya Takeshi Uchiumi Kazuhiko Tsuruya Masahiro Kamouchi Hiroaki Ooboshi Takanari Kitazono |
| author_facet | Kuniyuki Nakamura Tetsuro Ago Akihiro Tsuchimoto Nozomi Noda Asako Nakamura Toshiharu Ninomiya Takeshi Uchiumi Kazuhiko Tsuruya Masahiro Kamouchi Hiroaki Ooboshi Takanari Kitazono |
| author_sort | Kuniyuki Nakamura |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-cfc9c707205b4d649e0f37b13cf3067a |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-cfc9c707205b4d649e0f37b13cf3067a2025-02-03T01:11:39ZengWileyCase Reports in Neurological Medicine2090-66682090-66762015-01-01201510.1155/2015/431461431461A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal ArteriolesKuniyuki Nakamura0Tetsuro Ago1Akihiro Tsuchimoto2Nozomi Noda3Asako Nakamura4Toshiharu Ninomiya5Takeshi Uchiumi6Kazuhiko Tsuruya7Masahiro Kamouchi8Hiroaki Ooboshi9Takanari Kitazono10Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanDepartment of Internal Medicine, Fukuoka Dental College Medical and Dental Hospital, Fukuoka 814-0193, JapanDepartment of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, JapanWe 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.http://dx.doi.org/10.1155/2015/431461 |
| spellingShingle | Kuniyuki Nakamura Tetsuro Ago Akihiro Tsuchimoto Nozomi Noda Asako Nakamura Toshiharu Ninomiya Takeshi Uchiumi Kazuhiko Tsuruya Masahiro Kamouchi Hiroaki Ooboshi Takanari Kitazono 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 |
| title | A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles |
| title_full | A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles |
| title_fullStr | A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles |
| title_full_unstemmed | A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles |
| title_short | A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles |
| title_sort | cadasil like case with a novel noncysteine mutation of the notch3 gene and granular deposits in the renal arterioles |
| url | http://dx.doi.org/10.1155/2015/431461 |
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