The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

被引：167

作者：

Abramzon, Yevgeniya A. ^{[1
,2
]}

Fratta, Pietro ^{[2
]}

Traynor, Bryan J. ^{[1
,3
]}

Chia, Ruth ^{[1
]}

机构：

[1] NIA, Neuromuscular Dis Res Sect, Lab Neurogenet, NIH, Bethesda, MD 20814 USA

[2] UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London, England

[3] Johns Hopkins Univ, Dept Neurol, Brain Sci Inst, Baltimore, MD 21218 USA

来源：

FRONTIERS IN NEUROSCIENCE | 2020年 / 14卷

基金：

奥地利科学基金会; 英国医学研究理事会; 美国国家卫生研究院;

关键词：

amyotrophic lateral sclerosis; frontotemporal dementia; neurological disorders; neurodegeneration; overlapping genetics; MOTOR-NEURON DEGENERATION; DIPEPTIDE REPEAT PROTEINS; DNA-BINDING PROTEIN; HEXANUCLEOTIDE REPEAT; LOBAR DEGENERATION; PHASE-SEPARATION; PAGET-DISEASE; MOUSE MODEL; IN-VITRO; C9ORF72;

D O I：

10.3389/fnins.2020.00042

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases that form a broad neurodegenerative continuum. Considerable effort has been made to unravel the genetics of these disorders, and, based on this work, it is now clear that ALS and FTD have a significant genetic overlap. TARDBP, SQSTM1, VCP, FUS, TBK1, CHCHD10, and most importantly C9orf72, are the critical genetic players in these neurological disorders. Discoveries of these genes have implicated autophagy, RNA regulation, and vesicle and inclusion formation as the central pathways involved in neurodegeneration. Here we provide a summary of the significant genes identified in these two intrinsically linked neurodegenerative diseases and highlight the genetic and pathological overlaps.

引用

页数：10

共 127 条

[81] Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis [J].

Neumann, Manuela ;

Sampathu, Deepak M. ;

Kwong, Linda K. ;

Truax, Adam C. ;

Micsenyi, Matthew C. ;

Chou, Thomas T. ;

Bruce, Jennifer ;

Schuck, Theresa ;

Grossman, Murray ;

Clark, Christopher M. ;

McCluskey, Leo F. ;

Miller, Bruce L. ;

Masliah, Eliezer ;

Mackenzie, Ian R. ;

Feldman, Howard ;

Feiden, Wolfgang ;

Kretzschmar, Hans A. ;

Trojanowski, John Q. ;

Lee, Virginia M. -Y. .

SCIENCE, 2006, 314 (5796) :130-133

[82] Loss of Dynamic RNA Interaction and Aberrant Phase Separation Induced by Two Distinct Types of ALS/FTD-Linked FUS Mutations [J].

Niaki, Amirhossein Ghanbari ;

Sarkar, Jaya ;

Cai, Xinyi ;

Rhine, Kevin ;

Vidaurre, Velinda ;

Guy, Brian ;

Hurst, Miranda ;

Lee, Jong Chan ;

Koh, Hye Ran ;

Guo, Lin ;

Fare, Charlotte M. ;

Shorter, James ;

Myong, Sua .

MOLECULAR CELL, 2020, 77 (01) :82-+

[83] C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD [J].

O'Rourke, Jacqueline G. ;

Bogdanik, Laurent ;

Muhammad, A. K. M. G. ;

Gendron, Tania F. ;

Kim, Kevin J. ;

Austin, Andrew ;

Cady, Janet ;

Liu, Elaine Y. ;

Zarrow, Jonah ;

Grant, Sharday ;

Ho, Ritchie ;

Bell, Shaughn ;

Carmona, Sharon ;

Simpkinson, Megan ;

Lall, Deepti ;

Wu, Kathryn ;

Daughrity, Lillian ;

Dickson, Dennis W. ;

Harms, Matthew B. ;

Petrucelli, Leonard ;

Lee, Edward B. ;

Lutz, Cathleen M. ;

Baloh, Robert H. .

NEURON, 2015, 88 (05) :892-901

[84] AAA+ superfamily ATPases:: common structure-diverse function [J].

Ogura, T ;

Wilkinson, AJ .

GENES TO CELLS, 2001, 6 (07) :575-597

[85] Selective autophagy of cytosolic protein aggregates involves ribosome-free rough endoplasmic reticulum [J].

Park, Sujin ;

Zuber, Christian ;

Roth, Jurgen .

HISTOCHEMISTRY AND CELL BIOLOGY, 2020, 153 (02) :89-99

[86] Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients [J].

Perrone, Federica ;

Hung Phuoc Nguyen ;

Van Mossevelde, Sara ;

Moisse, Matthieu ;

Sieben, Anne ;

Santens, Patrick ;

De Bleecker, Jan ;

Vandenbulcke, Mathieu ;

Engelborghs, Sebastiaan ;

Baets, Jonathan ;

Cras, Patrick ;

Vandenberghe, Rik ;

De Jonghe, Peter ;

De Deyn, Peter P. ;

Martin, Jean-Jacques ;

Van Dammec, Philip ;

Van Broeckhoven, Christine ;

van der Zee, Julie .

NEUROBIOLOGY OF AGING, 2017, 51 :177.e9-177.e16

[87] Differential requirement for TANK-binding kinase-1 in type I interferon responses to toll-like receptor activation and viral infection [J].

Perry, AK ;

Chow, EK ;

Goodnough, JB ;

Yeh, WC ;

Cheng, G .

JOURNAL OF EXPERIMENTAL MEDICINE, 2004, 199 (12) :1651-1658

[88] Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice [J].

Peters, Owen M. ;

Cabrera, Gabriela Toro ;

Tran, Helene ;

Gendron, Tania F. ;

McKeon, Jeanne E. ;

Metterville, Jake ;

Weiss, Alexandra ;

Wightman, Nicholas ;

Salameh, Johnny ;

Kim, Juhyun ;

Sun, Huaming ;

Boylan, Kevin B. ;

Dickson, Dennis ;

Kennedy, Zachary ;

Lin, Ziqiang ;

Zhang, Yong-Jie ;

Daughrity, Lillian ;

Jung, Chris ;

Gao, Fen-Biao ;

Sapp, Peter C. ;

Horvitz, H. Robert ;

Bosco, Daryl A. ;

Brown, Solange P. ;

de Jong, Pieter ;

Petrucelli, Leonard ;

Mueller, Christian ;

Brown, Robert H., Jr. .

NEURON, 2015, 88 (05) :902-909

[89] A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene [J].

Plewa, Jake ;

Surampalli, Abhilasha ;

Wencel, Marie ;

Milad, Merit ;

Donkervoort, Sandra ;

Caiozzo, Vincent J. ;

Goyal, Namita ;

Mozaffar, Tahseen ;

Kimonis, Virginia .

NEUROMUSCULAR DISORDERS, 2018, 28 (09) :778-786

[90] The prevalence of frontotemporal dementia [J].

Ratnavalli, E ;

Brayne, C ;

Dawson, K ;

Hodges, JR .

NEUROLOGY, 2002, 58 (11) :1615-1621

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