Evidence map›Paper›PMID 38700104›Full record

ArticleAnnals of clinical and translational neurology2024

POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

Wai Yan Yau, Catherine Ashton, Eoin Mulroy, Thomas Foltynie, Patricia Limousin, Jana Vandrovcova, Kunal P Verma, Rick Stell, Mark Davis, Phillipa Lamont

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PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Wai Yan YauPerron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, Australia.ORCID 0000-0001-6284-9163
Catherine AshtonDepartment of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
Eoin MulroyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID 0000-0002-0823-8916
Thomas FoltynieDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Patricia LimousinUnit of Functional Neurosurgery, UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.
Jana VandrovcovaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Kunal P VermaBaker Heart and Diabetes Research Institute, Melbourne, Victoria, Australia.
Rick StellPerron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, Australia.
Mark DavisDepartment of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health, Nedlands, Western Australia, Australia.
Phillipa LamontDepartment of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.

Funding

Department of Health, Government of Western AustraliaRACP Foundation
6 · The paper itself

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.

Indexed as

Deep Brain StimulationDystoniaRNA Polymerase IIIAdolescentAdultChildFemaleHumansIntellectual DisabilityMaleMuscle SpasticityOptic AtrophySpinocerebellar AtaxiasYoung AdultPOLR3A protein, humanRNA Polymerase III

Identifiers

PMID38700104
PMCPMC11187961

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.