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

doi:10.1007/s10072-021-05462-1

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

Community

Back to search

Article

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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2022

Di Donato Ilaria, Gallo Antonio, Ricca Ivana, Fini Nicola, Silvestri Gabriella, Gurrieri Fiorella, Cirillo Mario, Cerase Alfonso, Natale Gemma, Matrone Federica, Riso Vittorio, Melone Mariarosa Anna Beatrice, Tessa Alessandra, De Michele Giovanna, Federico Antonio, Filla Alessandro, Dotti Maria Teresa, Santorelli Filippo Maria

Abstract excerpt

Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes to milder and later-onset gait disorders with central hypomyelination, with or without additional non-neurological signs. Recently, a milder phenotype consisting of late-onset spastic ataxia without hypomyelinating leukodystrophy has been...

Read the complete abstract on PubMed

Topics

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

Share to Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Optic Atrophy

Share to Paraparesis, Spastic

Share to Phenotype

Share to RNA Polymerase III

Share to Spastic Paraplegia, Hereditary

Share to Spinocerebellar Ataxias

Source

Open in PubMed Open full text

Identifiers

PMID: 34296356
DOI: 10.1007/s10072-021-05462-1
PMCID: PMC8789690

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

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.PMID 34296356Read ↗

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

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

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.Semantic proximity Read ↗

A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.Semantic proximity Read ↗

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

Striatal Variant of POLR3A: Report of Two Indian Cases.Semantic proximity Read ↗

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.Semantic proximity Read ↗

Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor DisorderSemantic proximity Read ↗

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

Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.Semantic proximity Read ↗

Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case reportSemantic proximity Read ↗

PLP1 gene mutations cause spastic paraplegia type 2 in three families.Semantic proximity Read ↗

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