ArticleJournal of neurology2020
POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Article
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- Involvement of the Superior Cerebellar Peduncles in GAA-Neurology. Genetics · 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
- Deep Brain Stimulation of the VIM for Tremor in a Patient with POLR3A-Associated Cerebellar Syndrome Without Long-Term Benefit.Tremor and other hyperkinetic movements (New York, N.Y.) · 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
- Neuroradiological findings in GAA-medRxiv : the preprint server for health sciences · 2024Article
- The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.Genes · 2024Article
- Novel Pathogenic Variants inHuman mutation · 2024Article
- Comparative Genomic Analysis Identifies Great-Ape-Specific Structural Variants and Their Evolutionary Relevance.Molecular biology and evolution · 2023Article
- Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.Frontiers in neurology · 2023Article
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.Neurology. Genetics · 2022Article
- Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation-Case report.Clinical case reports · 2022Article
- Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.Neuropathology : official journal of the Japanese Society of Neuropathology · 2022Article
- Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.Annals of clinical and translational neurology · 2020Article
- Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic, clinical and imaging findings. Patients belonged to six pedigrees with hereditary spastic paraplegia or cerebellar ataxia of unknown origin. All affected subjects presented with compound heterozygous variants, comprising c.1909 + 22G > A in combination in each pedigree with one of the following novel mutations (Thr596Met, Tyr665LeufsTer11, Glu198Ter, c.646-687_1185 + 844del). The new mutations segregated with the phenotype in all families. The phenotype combined variable cerebellar ataxia, gait and lower limb spasticity, involvement of central sensory tracts and in some cases also intention tremor. The reportedly characteristic hyperintensity along the superior cerebellar peduncle on MRI was observed in ~ 80% of the cases. Our study extends the clinical and molecular phenotype further supporting the pathogenic role of the c.1909 + 22G4A intronic mutation and identifying four novel causative mutations in POLR3A-related spastic ataxia. Certain characteristic MRI features may be useful to guide genetic diagnosis.
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