Of note, screening of a cohort of ∼60 individuals with a BHC-like syndrome and lacking mutations in NKX2-1 (clinically resembling subjects with PDE10A mutations but with normal brain MRI ) did not reveal any additional mutations in PDE10A. The latter suggests that PDE10A-related chorea might represent a distinct genetic clinico-radiological entity. Here, PDE10A is linked to choreatic disease.