The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

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

doi:10.3389/fnins.2020.00042

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Front Neurosci. 2020 Feb 5:14:42. doi: 10.3389/fnins.2020.00042. eCollection 2020.

Authors

Yevgeniya A Abramzon^{1

2}, Pietro Fratta², Bryan J Traynor^{1

3}, Ruth Chia¹

Affiliations

¹ Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, United States.
² Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom.
³ Department of Neurology, Brain Science Institute, Johns Hopkins University, Baltimore, MD, United States.

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.

Keywords: amyotrophic lateral sclerosis; frontotemporal dementia; neurodegeneration; neurological disorders; overlapping genetics.

Publication types

Review

Abstract

Publication types

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