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The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Journal

FRONTIERS IN NEUROSCIENCE
Volume 14, Issue -, Pages -

Publisher

FRONTIERS MEDIA SA
DOI: 10.3389/fnins.2020.00042

Keywords

amyotrophic lateral sclerosis; frontotemporal dementia; neurological disorders; neurodegeneration; overlapping genetics

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Funding

  1. Intramural Research Programs of the U.S. National Institutes of Health, National Institute on Aging [Z01-AG000949-02]
  2. National Institute of Neurological Disorders and Stroke
  3. University College London
  4. MRC [MR/M008606/1, MR/S006508/1] Funding Source: UKRI

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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.

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