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The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Abramzon, YA; Fratta, P; Traynor, BJ; Chia, R; (2020) The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Frontiers In Neuroscience , 14 , Article 42. 10.3389/fnins.2020.00042. Green open access

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Abstract

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.

Type: Article
Title: The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Open access status: An open access version is available from UCL Discovery
DOI: 10.3389/fnins.2020.00042
Publisher version: https://doi.org/10.3389/fnins.2020.00042
Language: English
Additional information: Copyright © 2020 Abramzon, Fratta, Traynor and Chia. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: amyotrophic lateral sclerosis, frontotemporal dementia, neurological disorders, neurodegeneration, overlapping genetics
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10095758
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