The TWNK gene encodes Twinkle, the mitochondrial DNA helicase that cooperates with the mitochondrial DNA polymerase (POLG) to maintain mitochondrial DNA integrity. Heterozygous TWNK mutations cause autosomal dominant progressive external ophthalmoplegia (PEO). Some patients with TWNK-linked PEO additionally develop late-onset neurodegenerative parkinsonism.1 However, little is known about the neuropathology of TWNK-linked parkinsonism. In this study, we describe neuropathologic findings in a patient with PEO and parkinsonism and a heterozygous TWNK mutation.
CITATION STYLE
Vandenberghe, W., Imberechts, D., Van Laere, K., Jannis, L., De Hertogh, G., Ronisz, A., & Thal, D. R. (2021). Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK. Neurology: Genetics, 7(5). https://doi.org/10.1212/NXG.0000000000000620
Mendeley helps you to discover research relevant for your work.