All in the Family: Repeats and ALS/FTD

Amrutha Pattamatta; John D Cleary; Laura P W Ranum

doi:10.1016/j.tins.2018.03.010

All in the Family: Repeats and ALS/FTD

Trends Neurosci. 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010.

Authors

Amrutha Pattamatta¹, John D Cleary¹, Laura P W Ranum²

Affiliations

¹ Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA.
² Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA; McKnight Brain Institute, University of Florida, Gainesville, FL, USA; Genetics Institute, University of Florida, Gainesville, FL, USA. Electronic address: ranum@ufl.edu.

Abstract

In 2011, an intronic (G₄C₂)•(G₂C₄) expansion was shown to cause the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.

Keywords: ALS; C9orf72; CCGGGG; FTD; GGGGCC; RAN translation; RNA foci; amyotrophic lateral sclerosis; frontotemporal dementia; repeat-associated non-ATG translation.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Animals
C9orf72 Protein / genetics*
DNA Repeat Expansion*
Frontotemporal Dementia / genetics*
Humans

All in the Family: Repeats and ALS/FTD

Authors

Affiliations

Abstract

Publication types

MeSH terms

Substances

Supplementary concepts

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