ArticleNeurogenetics2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Article in Neurogenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- "Deep Brain Stimulation of the Ventral Intermediate Nucleus of the Thalamus for Tremor in Polr3a-Related Tremor-ataxia Syndrome: A Two-case Report".Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.Journal of child neurology · 2025Article
- Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.Molecular genetics & genomic medicine · 2024Article
- POLR3A-related disorders: expanding the clinical phenotype.Journal of neurology · 2024Article
- Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.Scientific reports · 2024Article
- Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.Molecular genetics & genomic medicine · 2024Article
- The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.Genes · 2024Article
- POLR3-related leukodystrophy caused by biallelicFrontiers in neurology · 2024Article
- Novel Pathogenic Variants inHuman mutation · 2024Article
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inJournal of medical genetics · 2023Article
- Cortical interneuron development is affected in 4H leukodystrophy.Brain : a journal of neurology · 2023Article
- Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.Clinical and experimental pediatrics · 2023Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- The fecal microbiota from children with autism impact gut metabolism and learning and memory abilities of honeybees.Frontiers in microbiology · 2023Article
- Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report.Clinical case reports · 2022Article
- Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.Neurology · 2022Article
- Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.American journal of medical genetics. Part A · 2022Article
- Variants inHGG advances · 2021Article
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Authors and funding
17 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported. Genetic, clinical findings and 18 MRI scans from nine patients with homozygous or compound heterozygous POLR3A variants and predominant striatal changes were retrospectively reviewed in order to characterize the striatal variant of POLR3A-associated disease. Prominent extrapyramidal involvement was the predominant clinical sign in all patients. The three youngest children were severely affected with muscle hypotonia, impaired head control, and choreic movements. Presentation of the six older patients was milder. Two brothers diagnosed with juvenile parkinsonism were homozygous for the c.1771-6C > G variant in POLR3A; the other seven either carried c.1771-6C > G (n = 1) or c.1771-7C > G (n = 7) together with another variant (missense, synonymous, or intronic). Striatal T2-hyperintensity and atrophy together with involvement of the superior cerebellar peduncles were characteristic. Additional MRI findings were involvement of dentate nuclei, hila, or peridentate white matter (3, 6, and 4/9), inferior cerebellar peduncles (6/9), red nuclei (2/9), and abnormal myelination of pyramidal and visual tracts (6/9) but no frank hypomyelination. Clinical and MRI findings in patients with a striatal variant of POLR3A-related disease are distinct from 4H leukodystrophy and associated with one of two intronic variants, c.1771-6C > G or c.1771-7C > G, in combination with another POLR3A variant.
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