Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.

ABSTRACT:

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. Patient 2 presented with infant-onset rapidly progressive chorea, and dystonia. Three patients (patients 3, 5, 6) presented predominantly with ataxia in combination with spasticity and dystonia. Patient 4 developed segmental dystonia during adolescence and ataxi

SUBMITTER: Zea Vera A 

PROVIDER: S-EPMC9941928 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature