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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Autores principales:	Andrew Geronimo, Kathryn E. Sheldon, James R. Broach, Zachary Simmons, Steven J. Schiff
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	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
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Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performance

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