GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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DOI：
10.1002/ana.25586
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发表时间：
2019-10-22
影响因子：
11.2
通讯作者：
Tanaka, Fumiaki
中科院分区：
文献类型：
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作者：
Okubo, Masaki;Doi, Hiroshi;Tanaka, Fumiaki
白质脑病包括广泛的疾病，但成人白质脑病的遗传背景很少被评估。在这项研究中，我们使用全外显子组测序和重复引物聚合酶链反应检测NOTCH2NLC中GGC扩增，分析了101名遗传未解决的日本成人白质脑病患者。NOTCH2NLC最近被确定为神经元核内包涵病的病因。在我们的队列中，我们发现12例NOTCH2NLC中GGC扩张是成人白质脑病的最常见原因，其次是NOTCH3变异。此外，我们发现1例从头开始的GGC扩张，这可能解释了散发病例的潜在发病机制。Ann neurol 2019
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