| Literature DB >> 31433517 |
Masaki Okubo1, Hiroshi Doi1, Ryoko Fukai1, Atsushi Fujita2, Satomi Mitsuhashi2, Shunta Hashiguchi1, Hitaru Kishida3, Naohisa Ueda3, Keisuke Morihara1, Akihiro Ogasawara1, Yuko Kawamoto1, Tatsuya Takahashi4, Keita Takahashi1, Haruko Nakamura1, Misako Kunii1, Mikiko Tada1, Atsuko Katsumoto1, Hiromi Fukuda1,2, Takeshi Mizuguchi2, Satoko Miyatake2, Noriko Miyake2, Junichiro Suzuki5, Yasuhiro Ito5, Jun Sone6,7, Gen Sobue7,8,9, Hideyuki Takeuchi1, Naomichi Matsumoto2, Fumiaki Tanaka1.
Abstract
Leukoencephalopathies comprise a broad spectrum of disorders, but the genetic background of adult leukoencephalopathies has rarely been assessed. In this study, we analyzed 101 Japanese patients with genetically unresolved adult leukoencephalopathy using whole-exome sequencing and repeat-primed polymerase chain reaction for detecting GGC expansion in NOTCH2NLC. NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease. We found 12 patients with GGC expansion in NOTCH2NLC as the most frequent cause of adult leukoencephalopathy followed by NOTCH3 variants in our cohort. Furthermore, we found 1 case with de novo GGC expansion, which might explain the underlying pathogenesis of sporadic cases. ANN NEUROL 2019;86:962-968.Entities:
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Year: 2019 PMID： 31433517 DOI： 10.1002/ana.25586
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422