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

共 50 条

[41] NOVEL CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7 GENE MUTATION ASSOCIATED WITH CHARGE AND ATYPICAL, COMPLETE DIGEORGE SYNDROMES
Petitto, J.
Perry, T. T.
Schaefer, G. B.
Jones, S. M.
Scurlock, A. M.
JOURNAL OF INVESTIGATIVE MEDICINE, 2011, 59 (02) : 395 - 396
[42] A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia
Silvestri, G
Servidei, S
Rana, M
Ricci, E
Spinazzola, A
Paris, E
Tonali, P
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 220 (03) : 623 - 627
[43] A novel mutation in the mitochondrial tRNAPhe gene associated with mitochondrial myopathy and encephalopathy
Moslemi, AR
Lindberg, C
Toft, J
Holme, E
Kollberg, G
Oldfors, A
NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 641 - 641
[44] Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy
Manfredi, G
Schon, EA
Bonilla, E
Moraes, CT
Shanske, S
DiMauro, S
HUMAN MUTATION, 1996, 7 (02) : 158 - 163
[45] A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy
Nishino, I
Seki, A
Maegaki, Y
Takeshita, K
Horai, S
Nonaka, I
Goto, Y
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1996, 225 (01) : 180 - 185
[46] The presence of Lewy body pathology in parkinsonism with multiple mitochondrial DNA deletions; an autopsy case report
Kaneda, Daita
Shintaku, Masayuki
Kato, Tomonobu
Oka, Nobuyuki
Nishino, Ichizo
Goto, Yu-ichi
NEUROLOGY, 2008, 70 (11) : A485 - A486
[47] Parkinsonism-MELAS overlap syndrome associated with a mitochondrial cytochrome b frameshift mutation
DeCoo, RFM
Renier, WO
Ruitenbeek, W
Ter Laak, HJ
Bakker, M
Van Oost, BA
Smeets, HJM
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A306 - A306
[48] Hereditary glomerulopathy associated with a mitochondrial tRNALeu gene mutation
H. I. Cheong
Jong Hee Chae
Jung Sue Kim
Hye Won Park
Il Soo Ha
Yong Seung Hwang
Hyun Soon Lee
Yong Choi
Pediatric Nephrology, 1999, 13 : 477 - 480
[49] Hereditary glomerulopathy associated with a mitochondrial tRNALeu gene mutation
Cheong, HI
Chae, JH
Kim, JS
Park, HW
Ha, IS
Hwang, YS
Lee, HS
Choi, Y
PEDIATRIC NEPHROLOGY, 1999, 13 (06) : 477 - 480
[50] Japanese Familial Cases of Frontotemporal Dementia and Parkinsonism with N279K Tau Gene Mutation
Oka, Yuwa
Saiki, Hidemoto
Hashimoto, Yasumasa
Terada, Yuta
Nakamura, Takashi
Ayaki, Takashi
Orimo, Satoshi
Matsumoto, Sadayuki
MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 (01): : 126 - 132

← 1 2 3 4 5 →