Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance

Abstract Abnormal expansion of hexanucleotide GGGGCC (G4C2) in the C9ORF72 gene has been associated with multiple neurodegenerative disorders, with particularly high prevalence in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat expansions of this type have been associat...

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Auteurs principaux: Andrew Geronimo, Kathryn E. Sheldon, James R. Broach, Zachary Simmons, Steven J. Schiff
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Langue:EN
Publié: Nature Portfolio 2017
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Accès en ligne:https://doaj.org/article/65f7f6627a3e4b1a8e9f80e21f08f738
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spelling oai:doaj.org-article:65f7f6627a3e4b1a8e9f80e21f08f7382021-12-02T16:08:24ZExpansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance10.1038/s41598-017-08857-32045-2322https://doaj.org/article/65f7f6627a3e4b1a8e9f80e21f08f7382017-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-08857-3https://doaj.org/toc/2045-2322Abstract Abnormal expansion of hexanucleotide GGGGCC (G4C2) in the C9ORF72 gene has been associated with multiple neurodegenerative disorders, with particularly high prevalence in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat expansions of this type have been associated with altered pathology, symptom rate and severity, as well as psychological changes. In this study, we enrolled twenty-five patients with ALS and fifteen neurologically healthy controls in a P300 brain-computer interface (BCI) training procedure. Four of the patients were found to possess an expanded allele, which was associated with a reduction in the quality of evoked potentials that led to reduced performance on the BCI task. Our findings warrant further exploration of the relationship between brain function and G4C2 repeat length. Such a relationship suggests that personalized assessment of suitability of BCI as a communication device in patients with ALS may be feasible.Andrew GeronimoKathryn E. SheldonJames R. BroachZachary SimmonsSteven J. SchiffNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-6 (2017)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Andrew Geronimo
Kathryn E. Sheldon
James R. Broach
Zachary Simmons
Steven J. Schiff
Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
description Abstract Abnormal expansion of hexanucleotide GGGGCC (G4C2) in the C9ORF72 gene has been associated with multiple neurodegenerative disorders, with particularly high prevalence in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat expansions of this type have been associated with altered pathology, symptom rate and severity, as well as psychological changes. In this study, we enrolled twenty-five patients with ALS and fifteen neurologically healthy controls in a P300 brain-computer interface (BCI) training procedure. Four of the patients were found to possess an expanded allele, which was associated with a reduction in the quality of evoked potentials that led to reduced performance on the BCI task. Our findings warrant further exploration of the relationship between brain function and G4C2 repeat length. Such a relationship suggests that personalized assessment of suitability of BCI as a communication device in patients with ALS may be feasible.
format article
author Andrew Geronimo
Kathryn E. Sheldon
James R. Broach
Zachary Simmons
Steven J. Schiff
author_facet Andrew Geronimo
Kathryn E. Sheldon
James R. Broach
Zachary Simmons
Steven J. Schiff
author_sort Andrew Geronimo
title Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
title_short Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
title_full Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
title_fullStr Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
title_full_unstemmed Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
title_sort expansion of c9orf72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/65f7f6627a3e4b1a8e9f80e21f08f738
work_keys_str_mv AT andrewgeronimo expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance
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AT jamesrbroach expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance
AT zacharysimmons expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance
AT stevenjschiff expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance
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