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The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
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 ove...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012787/ https://www.ncbi.nlm.nih.gov/pubmed/32116499 http://dx.doi.org/10.3389/fnins.2020.00042 |
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author | Abramzon, Yevgeniya A. Fratta, Pietro Traynor, Bryan J. Chia, Ruth |
author_facet | Abramzon, Yevgeniya A. Fratta, Pietro Traynor, Bryan J. Chia, Ruth |
author_sort | Abramzon, Yevgeniya A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7012787 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-70127872020-02-28 The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Abramzon, Yevgeniya A. Fratta, Pietro Traynor, Bryan J. Chia, Ruth Front Neurosci Neuroscience 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. Frontiers Media S.A. 2020-02-05 /pmc/articles/PMC7012787/ /pubmed/32116499 http://dx.doi.org/10.3389/fnins.2020.00042 Text en Copyright © 2020 Abramzon, Fratta, Traynor and Chia. http://creativecommons.org/licenses/by/4.0/ 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. |
spellingShingle | Neuroscience Abramzon, Yevgeniya A. Fratta, Pietro Traynor, Bryan J. Chia, Ruth The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
title | The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
title_full | The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
title_fullStr | The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
title_full_unstemmed | The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
title_short | The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
title_sort | overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia |
topic | Neuroscience |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012787/ https://www.ncbi.nlm.nih.gov/pubmed/32116499 http://dx.doi.org/10.3389/fnins.2020.00042 |
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