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

被引：1

作者：

Vandenberghe, Wim ^{[1
,2
,3
]}

Imberechts, Dorien ^{[2
,3
]}

Van Laere, Koen ^{[4
,5
]}

Jannis, Levi ^{[6
]}

De Hertogh, Gert ^{[6
]}

Ronisz, Alicja ^{[3
,7
]}

Thal, Dietmar Rudolf ^{[3
,6
,7
]}

机构：

[1] Univ Hosp Leuven, Dept Neurol, Leuven, Belgium

[2] Katholieke Univ Leuven, Dept Neurosci, Lab Parkinson Res, Leuven, Belgium

[3] Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Belgium

[4] Univ Hosp Leuven, Div Nucl Med, Leuven, Belgium

[5] Katholieke Univ Leuven, Dept Imaging & Pathol Nucl Med & Mol Imaging, Leuven, Belgium

[6] Univ Hosp Leuven, Dept Pathol, Leuven, Belgium

[7] Katholieke Univ Leuven, Lab Neuropathol, Dept Imaging & Pathol, Leuven, Belgium

来源：

NEUROLOGY-GENETICS | 2021年 / 7卷 / 05期

关键词：

D O I：

10.1212/NXG.0000000000000620

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：3

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