ArticleNeurogenetics2010
A novel variation in the Twinkle linker region causing late-onset dementia.
Article in Neurogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 22 citations in OpenAlex.
- Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase GeneNeurology. Genetics · 2021Article
- Review
- Broadening the phenotype of the TWNK gene associated Perrault syndrome.BMC medical genetics · 2019Article
- Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.Human molecular genetics · 2019Article
- POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.Annals of clinical and translational neurology · 2017Article
- Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Metabolic brain disease · 2016Article
- Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.Neurology · 2014Article
- Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2014Article
- Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variations in the mitochondrial helicase Twinkle (PEO1) gene are usually associated with autosomal dominant chronic progressive external ophthalmoplegia (PEO). We describe five patients from two unrelated Alsatian families with the new R374W variation in the Twinkle linker region who progressively developed an autosomal dominant multisystem disorder with PEO, hearing loss, myopathy, dysphagia, dysphonia, sensory neuropathy, and late-onset dementia resembling Alzheimer's disease. These observations demonstrate that Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.