Adult leukoencephalopathy and GGC repeat expansion of NOTCH2NLC

Takeaway

  • GGC expansion in NOTCH2NLC was the most frequent cause of adult leukoencephalopathy and de novo GGC expansion may explain underlying pathogenesis of sporadic cases.

Why this matters

  • Genetic background of adult leukoencephalopathies has been rarely assessed; identifying GGC expansion in NOTCH2NLC may present a new strategy for diagnosis of adult leukoencephalopathy, facilitating clinical management.

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