The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Yevgeniya A. Abramzon; Yevgeniya A. Abramzon; Pietro Fratta; Bryan J. Traynor; Bryan J. Traynor; Ruth Chia

doi:10.3389/fnins.2020.00042

Frontiers in Neuroscience (Feb 2020)

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Yevgeniya A. Abramzon,
Yevgeniya A. Abramzon,
Pietro Fratta,
Bryan J. Traynor,
Bryan J. Traynor,
Ruth Chia

Affiliations

Yevgeniya A. Abramzon: Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, United States
Yevgeniya A. Abramzon: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
Pietro Fratta: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
Bryan J. Traynor: Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, United States
Bryan J. Traynor: Department of Neurology, Brain Science Institute, Johns Hopkins University, Baltimore, MD, United States
Ruth Chia: Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, United States

DOI: https://doi.org/10.3389/fnins.2020.00042
Journal volume & issue: Vol. 14

Abstract

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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.

Published in Frontiers in Neuroscience

ISSN: 1662-4548 (Print); 1662-453X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry
Website: http://www.frontiersin.org/neuroscience

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Abstract

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