Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase Gene TWNK.

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. The authors thank Dr. Guy Wilms (University Hospitals Leuven) for performing MRI, Dr. Valerie Race (University Hospitals Leuven) for genetic analysis, Dr. Peter Davies (Albert Einstein College of Medicine, New York, USA) for the gift of the PHF1 and MC1 antibodies, and the J. David Gladstone Institutes (San Francisco, USA) for the gift of the acK274-tau antibody (MAB359). The authors thank Dr. Guy Wilms (University Hospitals Leuven) for performing MRI, Dr. Valerie Race (University Hospitals Leuven) for genetic analysis, Dr. Peter Davies (Albert Einstein College of Medicine, New York, USA) for the gift of the PHF1 and MC1 antibodies, and the J. David Gladstone Institutes (San Francisco, USA) for the gift of the acK274-tau antibody (MAB359).