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.
Highlights
The repeat hexanucleotide GGGGCC (G4C2) expansion in the gene C9ORF72 is the most common identified genetic link between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)
Transcranial magnetic stimulation studies have identified a reduction in cortical inhibition attributable to this expansion found in ALS patients[13, 14]
One patient did not complete the ALS Cognitive Behavioral Screen (ALS-CBS) because of severe communication difficulties, and another did not complete the behavioral portion of the screen because of the lack of an available caregiver
Summary
The repeat hexanucleotide GGGGCC (G4C2) expansion in the gene C9ORF72 is the most common identified genetic link between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS patients possessing the repeat expansion exhibit earlier onset, more rapid progression, and earlier death[4,5,6,7,8,9,10]. In an electroencephalographic (EEG) study of seven ALS/FTD patients with the repeat expansion, two showed generalized slowing of the background activity, while another two showed intermittent abnormal temporal delta-theta activity[15]. The question of whether genotype, in this case as it applies to expansion of C9ORF72, produces measurable changes in the performance of an EEG-based BCI task is unexplored. Our hypothesis is that the BCI task in this study - evocation of the P300 potential and related visually evoked www.nature.com/scientificreports/. We describe a relationship between this repeat expansion and EEG modulation for the purpose of brain-computer interaction
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