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...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2017-08-01
|
Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-017-08857-3 |
id |
doaj-65f7f6627a3e4b1a8e9f80e21f08f738 |
---|---|
record_format |
Article |
spelling |
doaj-65f7f6627a3e4b1a8e9f80e21f08f7382020-12-08T03:19:57ZengNature Publishing GroupScientific Reports2045-23222017-08-01711610.1038/s41598-017-08857-3Expansion of C9ORF72 in amyotrophic lateral sclerosis correlates with brain-computer interface performanceAndrew Geronimo0Kathryn E. Sheldon1James R. Broach2Zachary Simmons3Steven J. Schiff4Penn State College of Medicine, Department of NeurosurgeryPenn State College of Medicine, Department of Biochemistry and Molecular BiologyPenn State College of Medicine, Department of Biochemistry and Molecular BiologyPenn State College of Medicine, Departments of Neurology and HumanitiesPenn State College of Medicine, Department of NeurosurgeryAbstract 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.https://doi.org/10.1038/s41598-017-08857-3 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Andrew Geronimo Kathryn E. Sheldon James R. Broach Zachary Simmons Steven J. Schiff |
spellingShingle |
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 Scientific Reports |
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 Publishing Group |
series |
Scientific Reports |
issn |
2045-2322 |
publishDate |
2017-08-01 |
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. |
url |
https://doi.org/10.1038/s41598-017-08857-3 |
work_keys_str_mv |
AT andrewgeronimo expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance AT kathrynesheldon expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance AT jamesrbroach expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance AT zacharysimmons expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance AT stevenjschiff expansionofc9orf72inamyotrophiclateralsclerosiscorrelateswithbraincomputerinterfaceperformance |
_version_ |
1724392646105890816 |