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Article

POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.

Movement disorders : official journal of the Movement Disorder Society - 15 Nov 2010

Schicks Julia, Synofzik Matthis, Schulte Claudia, Schöls Ludger

Abstract excerpt

Nuclear genes, in particular mitochondrial polymerase gamma (POLG) and PEO1, have been increasingly recognized to cause mitochondrial diseases. Both genes assume a complementary role as part of the mitochondrial DNA (mtDNA) replication fork and, accordingly, seem to present with largely overlapping phenotypical spectra. We assessed the frequency and phenotypic spectrum of PEO1 compared to POLG mutations in a...

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Source

Identifiers

PMID: 20803511
DOI: 10.1002/mds.23286

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.PMID 20803511Read ↗

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.Semantic proximity Read ↗

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.Semantic proximity Read ↗

POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.Semantic proximity Read ↗

Phenotypic Variability of Polymerase Gamma–Associated AtaxiaSemantic proximity Read ↗

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.Semantic proximity Read ↗

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.Semantic proximity Read ↗

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?Semantic proximity Read ↗

Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?Semantic proximity Read ↗

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.Semantic proximity Read ↗

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenSemantic proximity Read ↗

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.Semantic proximity Read ↗

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.Semantic proximity Read ↗

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