Atypical autosomal dominant leukodystrophy linked to deletions upstream of LMNB1 gene

Takeaway

  • Deletions upstream of the LMNB1 gene were associated with autosomal dominant leukodystrophy (ADLD) phenotypes.

Why this matters ?

  • ADLD is a fatal, progressive neurologic disorder that has previously shown to be caused by LMNB1 duplications; testing for this gene should become part of routine investigation in patients with ADLD.