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A novel variation in the Twinkle linker region causing late-onset dementia.
- Source :
-
Neurogenetics [Neurogenetics] 2010 Feb; Vol. 11 (1), pp. 21-5. Date of Electronic Publication: 2009 Jun 10. - Publication Year :
- 2010
-
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.
- Subjects :
- Adult
Age of Onset
Aged
Aged, 80 and over
Dementia diagnosis
Female
Genes, Dominant
Humans
Male
Mitochondrial Diseases genetics
Mitochondrial Proteins
Muscular Diseases diagnosis
Muscular Diseases genetics
Neurophysiology methods
Ophthalmoplegia, Chronic Progressive External diagnosis
Pedigree
DNA Helicases genetics
DNA, Mitochondrial genetics
Dementia genetics
Ophthalmoplegia, Chronic Progressive External genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1364-6753
- Volume :
- 11
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Neurogenetics
- Publication Type :
- Academic Journal
- Accession number :
- 19513767
- Full Text :
- https://doi.org/10.1007/s10048-009-0202-4