Spectrum of Pediatric to Early Adulthood POLR3A -Associated Movement Disorders.
Alonso G Zea VeraAdrienne BruceTravis R LarshZachary JordanNorbert BrüggemannAna WestenbergerAlberto J EspayDonald L GilbertSteve W WuPublished in: Movement disorders clinical practice (2022)
-related disorders exhibit significant phenotypic pleomorphism. Vertical gaze dysfunction and T2-weighted/FLAIR hyperintensity of the superior cerebellar peduncles and midbrain may be useful signs suggestive of this condition.