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.