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

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