We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
POLR3A‐related disorders: From spastic ataxia to generalised dystonia and long‐term efficacy of deep brain stimulation.
- Authors
Yau, Wai Yan; Ashton, Catherine; Mulroy, Eoin; Foltynie, Thomas; Limousin, Patricia; Vandrovcova, Jana; Verma, Kunal P.; Stell, Rick; Davis, Mark; Lamont, Phillipa
- Abstract
While biallelic POLR3A loss‐of‐function variants are traditionally linked to hypomyelinating leukodystrophy, patients with a specific splice variant c.1909+22G>A manifest as adolescent‐onset spastic ataxia without overt leukodystrophy. In this study, we reported eight new cases, POLR3A‐related disorder with c.1909+22 variant. One of these patients showed expanded phenotypic spectrum of generalised dystonia and her sister remained asymptomatic except for hypodontia. Two patients with dystonic arm tremor responded to deep brain stimulation. In our systemic literature review, we found that POLR3A‐related disorder with c.1909+22 variant has attenuated disease severity but frequency of dystonia and upper limb tremor did not differ among genotypes.
- Subjects
DEEP brain stimulation; MOVEMENT disorders; ATAXIA; DYSTONIA; LITERATURE reviews; SUBTHALAMIC nucleus; LEUKODYSTROPHY
- Publication
Annals of Clinical & Translational Neurology, 2024, Vol 11, Issue 6, p1636
- ISSN
2328-9503
- Publication type
Case Study
- DOI
10.1002/acn3.52064