The role of PDE8B mutations in autosomal-dominant striatal degeneration and in parkinsonism

Takeaway

  • A nonsense mutation was identified in the PDE8B gene of an individual with autosomal-dominant striatal degeneration (ADSD), but this mutation or other PDE8B mutations were not found to contribute to Parkinson’s disease (PD) or parkinsonism.

Why this matters

    This study expands the clinical and pathogenic spectrum of ADSD and suggests that mutations in PDE8B do not contribute to PD or parkinsonism.