Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Striatal Variant of POLR3A: Report of Two Indian Cases.

Neurology India - 1 Jul 2026

Gowda Vykuntaraju K, Reddy Viveka-Santhosh, Namratha P, Srinivasan Varunvenkat M

Abstract excerpt

ABSTRACT: Mutations in POLR3A are associated with a diverse spectrum of phenotypes ranging from classic hypomyelination to spastic ataxia, extrapyramidal syndromes with striatal atrophy (with or without hypomyelination), and neonatal progeroid syndromes. The striatal form is characterized by distinctive clinical and radiological features, most notably extrapyramidal symptoms such as dystonia. We report two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Corpus Striatum
Share to India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Mutation

Share to RNA Polymerase III

Source

Identifiers

PMID: 42478397
DOI: 10.4103/neurol-india.Neurol-India-D-25-00386

Genes

POLR3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Striatal Variant of POLR3A: Report of Two Indian Cases.PMID 42478397Read ↗

POLR3A variants with striatal involvement and extrapyramidal movement disorder.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.Semantic proximity Read ↗

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.Semantic proximity Read ↗

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.Semantic proximity Read ↗

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.Semantic proximity Read ↗

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.Semantic proximity Read ↗

Clinical and molecular spectrum associated with Polymerase-γ related disorders.Semantic proximity Read ↗

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophySemantic proximity Read ↗

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.Semantic proximity Read ↗

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.Semantic proximity Read ↗

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Semantic proximity Read ↗

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.