ArticleNeurology2010
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Article in Neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 96 citations in OpenAlex.
- The First HeterozygousBiomolecules · 2025Article
- Mitochondrial DNA depletion syndrome and its cardiac complication.Frontiers in cardiovascular medicine · 2025Review
- Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation.The Biochemical journal · 2024Review
- The N-terminal domain of human mitochondrial helicase Twinkle has DNA-binding activity crucial for supporting processive DNA synthesis by polymerase γ.The Journal of biological chemistry · 2023Article
- Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.Molecular genetics & genomic medicine · 2022Article
- Mitochondrial protein dysfunction in pathogenesis of neurological diseases.Frontiers in molecular neuroscience · 2022Review
- Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due toJournal of clinical medicine · 2021Article
- Mitochondrial function in development and disease.Disease models & mechanisms · 2021Review
- Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.Genes · 2020Article
- Extraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations.Investigative ophthalmology & visual science · 2020Article
- Review
- Broadening the phenotype of the TWNK gene associated Perrault syndrome.BMC medical genetics · 2019Article
- Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants.Frontiers in neurology · 2019Article
- Article
- Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.Cell reports · 2018Article
- Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.Neurology. Genetics · 2017Article
- Human mitochondrial DNA replication machinery and disease.Current opinion in genetics & development · 2016Review
- Novel subcellular localization of the DNA helicase Twinkle at the kinetochore complex during mitosis in neuronal-like progenitor cells.Histochemistry and cell biology · 2016Article
- Mitochondrial DNA maintenance: an appraisal.Molecular and cellular biochemistry · 2015Review
- Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
Corrections and comments
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Authors and funding
23 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease.
methodsWe reviewed the clinical, histochemical, and molecular genetics analysis of 33 unreported patients from 26 families together with all previous cases described in the literature to define the clinical phenotype associated with PEO1 mutations.
resultsPtosis and ophthalmoparesis were almost universal clinical features among this cohort, with 52% (17/33) reporting fatigue and 33% (11/33) having mild proximal myopathy. Features consistent with CNS involvement were rarely described; however, in 24% (8/33) of the patients, cardiac abnormalities were reported. Mitochondrial histochemical changes observed in muscle showed remarkable variability, as did the secondary mtDNA deletions, which in some patients were only detected by PCR-based assays and not Southern blotting. Moreover, we report 7 novel PEO1 variants.
conclusionsOur data suggest a shared clinical phenotype with variable mild multiorgan involvement, and that the contribution of PEO1 mutations as a cause of adPEO may well be underestimated. Direct sequencing of the PEO1 gene should be considered in adPEO patients prior to muscle biopsy.
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