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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019 See this aricle in Pubmed Article Abstract 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.

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