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Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders

Alonso Zea Vera1,2, Adrienne Bruce3,4, Travis R Larsh5,6

  • 1Department of Neurology Children's National Hospital Washington DC USA.

Movement Disorders Clinical Practice
|February 24, 2023
PubMed

Insights

Pathogenic variants in POLR3A gene cause rare neurological disorders with diverse movement problems. Key signs include vertical gaze impairment and specific brain MRI findings, aiding diagnosis.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • POLR3A pathogenic variants are linked to a spectrum of disorders.
  • These disorders are characterized by hypomyelination, hypodontia, hypogonadism, and movement abnormalities.

Observation:

  • Six patients with POLR3A variants presented with varied movement disorders including parkinsonism, dystonia, ataxia, spasticity, and chorea.
  • Four patients exhibited vertical gaze impairment.
  • Common brain MRI findings included T2-weighted/FLAIR hyperintensities in the superior cerebellar peduncles and midbrain.

Findings:

  • POLR3A-related disorders display significant phenotypic variability.
  • Novel and previously reported POLR3A variants were identified in the patient cohort.
  • The study details the specific movement disorder manifestations in relation to identified variants.

Implications:

  • Vertical gaze dysfunction and characteristic MRI findings may suggest POLR3A-related disorders.
  • Understanding the phenotypic spectrum aids in diagnosing and managing these rare conditions.
  • Further research into POLR3A's role in neurological development is warranted.
Abstract

Keywords:
POLR3Aataxiadystoniarare diseasesvertical gaze palsy

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