Alonso Zea Vera, Adrienne Bruce, Travis R Larsh, Zachary Jordan, Norbert Brüggemann, Ana Westenberger, Alberto J Espay, Donald L Gilbert, Steve W Wu
BACKGROUND: POLR3A pathogenic variants are associated with hypomyelination, hypodontia, hypogonadism, and movement disorders. CASES: We describe the range of movement disorders seen in six patients (four female, two male) with POLR3A variants [three novel (c.2214del, c.3775G>A, c.3905G>T) and six previously reported (c.760C>T, c.1771-7C>G, c.1909+22G>A, c.2005C>T, c.2422C>T, c.3337-11T>C)]. Patient 1 presented with a neonatal progeroid syndrome and developed parkinsonism, dystonia, ataxia, and spasticity...
February 2023: Movement Disorders Clinical Practice