October 2022; 8 (5) Clinical/Scientific NoteOpen Access
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
Yasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, Takuya Okata, Noriko Miyake, Naomichi Matsumoto, Takanari Kitazono, Tetsuro Ago
First published September 9, 2022, DOI: https://doi.org/10.1212/NXG.0000000000200017
Yasuhito Ikeuchi
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MDJiro Kitayama
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MD, PhDNoriyuki Sahara
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MDTakuya Okata
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MDNoriko Miyake
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MD, PhDNaomichi Matsumoto
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MD, PhDTakanari Kitazono
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MD, PhDTetsuro Ago
From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
MD, PhDFilamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
Yasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, Takuya Okata, Noriko Miyake, Naomichi Matsumoto, Takanari Kitazono, Tetsuro Ago
Neurol Genet Oct 2022, 8 (5) e200017; DOI: 10.1212/NXG.0000000000200017
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Article Information
vol. 8 no. 5 e200017
Online ISSN:
History:
- Received April 18, 2022
- Accepted in final form June 30, 2022
- First Published September 9, 2022.
Copyright & Usage:
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
Author Disclosures
- Yasuhito Ikeuchi, MD* (ikeuchi12004{at}gmail.com),
- Jiro Kitayama, MD, PhD* (j-kitayama{at}fukuoka-med.jrc.or.jp),
- Noriyuki Sahara, MD (nori.s0127{at}gmail.com),
- Takuya Okata, MD (rimata2585{at}gmail.com),
- Noriko Miyake, MD, PhD (nomiyake{at}ri.ncgm.go.jp),
- Naomichi Matsumoto, MD, PhD (naomat{at}yokohama-cu.ac.jp),
- Takanari Kitazono, MD, PhD (kitazono.takanari.362{at}m.kyushu-u.ac.jp) and
- Tetsuro Ago, MD, PhD
- Yasuhito Ikeuchi, MD* (ikeuchi12004{at}gmail.com),
- Jiro Kitayama, MD, PhD* (j-kitayama{at}fukuoka-med.jrc.or.jp),
- Noriyuki Sahara, MD (nori.s0127{at}gmail.com),
- Takuya Okata, MD (rimata2585{at}gmail.com),
- Noriko Miyake, MD, PhD (nomiyake{at}ri.ncgm.go.jp),
- Naomichi Matsumoto, MD, PhD (naomat{at}yokohama-cu.ac.jp),
- Takanari Kitazono, MD, PhD (kitazono.takanari.362{at}m.kyushu-u.ac.jp) and
- Tetsuro Ago, MD, PhD
- From the Department of Neurology (Y.I., J.K., N.S., T.O.), Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan; Department of Human Genetics (N. Miyake, N. Matsumoto), Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics (N. Miyake), Research Institute, National Center for Global Health and Medicine, Tokyo, Japan; Department of Medicine and Clinical Science (T.K., T.A.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
- Correspondence
Dr. Ago ago.tetsuro.544{at}m.kyushu-u.ac.jp
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