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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...

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Autores principales: Abramzon, Yevgeniya A., Fratta, Pietro, Traynor, Bryan J., Chia, Ruth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
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.
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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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