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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Okubo, Masaki; Doi, Hiroshi; Fukai, Ryoko; Fujita, Atsushi; Mitsuhashi, Satomi; Hashiguchi, Shunta; Kishida, Hitaru; Ueda, Naohisa; Morihara, Keisuke; Ogasawara, Akihiro; Kawamoto, Yuko; Takahashi, Tatsuya; Takahashi, Keita; Nakamura, Haruko; Kunii, Misako; Tada, Mikiko; Katsumoto, Atsuko; Fukuda, Hiromi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Suzuki, Junichiro; Ito, Yasuhiro; Sone, Jun; Sobue, Gen; Takeuchi, Hideyuki; Matsumoto, Naomichi; Tanaka, Fumiaki.
Afiliação
  • Okubo M; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Doi H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Fukai R; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
  • Hashiguchi S; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Kishida H; Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan.
  • Ueda N; Department of Neurology, Yokohama City University Medical Center, Yokohama, Japan.
  • Morihara K; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Ogasawara A; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Kawamoto Y; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Takahashi T; Department of Neurology, National Hospital Organization Yokohama Medical Center, Yokohama, Japan.
  • Takahashi K; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Nakamura H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Kunii M; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Tada M; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Katsumoto A; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Fukuda H; Department of Neurology and Stroke Medicine , Yokohama City University, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
  • Suzuki J; Department of Human Genetics, Yokohama City University, Yokohama, Japan.
  • Ito Y; Department of Neurology, Toyota Memorial Hospital, Toyota, Japan.
  • Sone J; Department of Neurology, Toyota Memorial Hospital, Toyota, Japan.
  • Sobue G; Department of Neurology, National Hospital Organization, Suzuka National Hospital, Suzuka, Japan.
  • Takeuchi H; Department of Neurology , Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Matsumoto N; Department of Neurology , Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Tanaka F; Brain and Mind Research Center, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Ann Neurol ; 86(6): 962-968, 2019 12.
Article em En | MEDLINE | ID: mdl-31433517
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;86962-968.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Expansão das Repetições de Trinucleotídeos / Receptor Notch2 / Leucoencefalopatias Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Expansão das Repetições de Trinucleotídeos / Receptor Notch2 / Leucoencefalopatias Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão