2017年2月
Genotype-phenotype correlations of cysteine replacement in CADASIL
NEUROBIOLOGY OF AGING
- 巻
- 50
- 号
- 開始ページ
- 169.e7
- 終了ページ
- 169.e14
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.neurobiolaging.2016.10.026
- 出版者・発行元
- ELSEVIER SCIENCE INC
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by cerebral infarction related to mutations in the notch homolog protein 3 (NOTCH3). We enrolled 10 patients whose brain magnetic resonance imaging (MRI) fluid-attenuated inversion recovery images showed hyperintensities (HIs) in the deep white matter and the external capsule. We then investigated the mutations in NOTCH3 using direct sequencing within the region of intron-exon boundaries in exons 2-24 of NOTCH3. Eight patients harboring NOTCH3 mutations (8 of 10) were identified, including a novel mutation, p.C162Y, and 3 cases with a sporadic form. Seven patients with cysteine replacement showed HI in the anterior part of the temporal lobes (ATLs), whereas these changes were not detected in 1 patient without cysteine replacement, p.R75P. Reviewing previous reports, we conclude that the patients can clearly be divided in 2 groups: those with cysteine replacement who showed HI in the ATL and those without cysteine replacement who showed no HI in the ATL. Our findings expand the understanding of genotypeephenotype correlations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. (C) 2016 Elsevier Inc. All rights reserved.
- リンク情報
- ID情報
-
- DOI : 10.1016/j.neurobiolaging.2016.10.026
- ISSN : 0197-4580
- eISSN : 1558-1497
- PubMed ID : 27890607
- Web of Science ID : WOS:000396891600028