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

[31] Mitochondrial Respiratory Dysfunction in Familiar Parkinsonism Associated with PINK1 Mutation
Piccoli, Claudia
Sardanelli, Annamaria
Scrima, Rosella
Ripoli, Maria
Quarato, Giovanni
D'Aprile, Annamaria
Bellomo, Francesco
Scacco, Salvatore
De Michele, Giuseppe
Filla, Alessandro
Iuso, Arcangela
Boffoli, Domenico
Capitanio, Nazzareno
Papa, Sergio
NEUROCHEMICAL RESEARCH, 2008, 33 (12) : 2565 - 2574
[32] Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family
Alexander Lossos
Avinoam Reches
Aya Gal
Joel P. Newman
Dov Soffer
John Moshe Gomori
Moshe Boher
Dana Ekstein
Iftah Biran
Zeev Meiner
Oded Abramsky
Hanna Rosenmann
Journal of Neurology, 2003, 250 : 733 - 740
[33] A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene
Silvestri, G
Rana, M
DiMuzio, A
Uncini, A
Tonali, P
Servidei, S
NEUROMUSCULAR DISORDERS, 1998, 8 (05) : 291 - 295
[34] Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family
Lossos, A
Reches, A
Gal, A
Newman, JP
Soffer, D
Gomori, JM
Boher, M
Ekstein, D
Biran, I
Meiner, Z
Abramsky, O
Rosenmann, H
JOURNAL OF NEUROLOGY, 2003, 250 (06) : 733 - 740
[35] A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene
Soliveri, P
Rossi, G
Monza, D
Tagliavini, F
Piacentini, S
Albanese, A
Bugiani, O
Girotti, F
ARCHIVES OF NEUROLOGY, 2003, 60 (10) : 1454 - 1456
[36] A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy
Blakely, E. L.
Goodall, J. A.
Anderson, K. N.
Betts, J. L.
Dean, A. F.
Allen, C. M. C.
Compston, A.
Turnbull, D. M.
Taylor, R. W.
JOURNAL OF INHERITED METABOLIC DISEASE, 2006, 29 : 16 - 16
[37] A NOVEL MITOCHONDRIAL-DNA POINT MUTATION ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOCARDIOMYOPATHY
SANTORELLI, FM
MAK, SC
VAZQUEZACEVEDO, M
GONZALEZASTIAZARAN, A
RIDAURASANZ, C
GONZALEZHALPHEN, D
DIMAURO, S
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 216 (03) : 835 - 840
[38] A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology
Kobayashi, T
Ota, S
Tanaka, K
Ito, Y
Hasegawa, M
Umeda, Y
Motoi, Y
Takanashi, M
Yasuhara, M
Anno, M
Mizuno, Y
Mori, H
ANNALS OF NEUROLOGY, 2003, 53 (01) : 133 - 137
[39] A MACULOPATHY ASSOCIATED WITH THE 15257 MITOCHONDRIAL-DNA MUTATION
HEHER, KL
JOHNS, DR
ARCHIVES OF OPHTHALMOLOGY, 1993, 111 (11) : 1495 - 1499
[40] A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE
MANFREDI, G
SCHON, EA
MORAES, CT
BONILLA, E
BERRY, GT
SLADKY, JT
DIMAURO, S
NEUROMUSCULAR DISORDERS, 1995, 5 (05) : 391 - 398

← 1 2 3 4 5 →