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J Hum Genet. 2018 May;63(5):687-690. doi: 10.1038/s10038-018-0428-9. Epub 2018 Mar 2.

RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis.

Author information

1
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
2
Faculty of Health, Medicine and Life Sciences, University of Maastricht, Maastricht, The Netherlands.
3
Department of Neurology, Toyooka Public Hospital, Toyooka, Japan.
4
Department of Neurology, Utano National Hospital, National Hospital Organization, Kyoto, Japan.
5
Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan. mizuno@koto.kpu-m.ac.jp.

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3, primarily affects small cerebral arteries; however, stenosis of major intracranial arteries has occasionally been reported. Recent studies identified a close association between the c.14576G>A (p.R4859K, rs112735431) variant of the ring finger protein 213 (RNF213) gene and sporadic intracranial arterial stenosis (ICAS). To determine whether RNF213 is associated with ICAS in CADASIL, we genotyped rs112735431 for 124 patients with CADASIL. The c.14576G>A carrier rate in CADASIL patients with ICAS (4/17; 23.5%) was significantly higher compared with those without ICAS (2/107; 1.9%) (P = 0.0032). Among patients with ICAS, frequency of territorial infarction was significantly higher in c.14576G>A carriers (75.0%) than in non-carriers (20.0%) (P = 0.0410). In addition, rate of ≥50% stenosis or occlusion tended to be higher in c.14576G>A carriers (4/4; 100%) than in non-carriers (6/13; 46.2%) (P = 0.1029). We conclude that RNF213 is a gene associated with susceptibility to ICAS in CADASIL patients. MRA follow-up and close observation are necessary for CADASIL patients with the RNF213 variant, as they may be predisposed to ICAS.

PMID:
29500468
DOI:
10.1038/s10038-018-0428-9
[Indexed for MEDLINE]

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