The original NeuroChip built on the NeuroX Illumina genotyping array, a platform used to investigate the genetic variation among patients with neurodegenerative diseases. The original NeuroChip added 154,761 neurodegenerative disease variants to the 24,706 variants already on the NeuroX platform. Here, we aim to further increase the number of neurologically relevant disease variants present on the NeuroChip by first compiling relevant genetic information for each mutation.

We used the Human Gene Mutation Database (HGMD) to compile lists of neurological disease-related genes and variants. To generate the list of genes implicated in neurological diseases, we utilized previous literature describing candidate genes, reviewed these genes with investigators studying these diseases, and included the genes associated with these disease phenotypes on HGMD. We used HGMD to compile relevant information of variants associated with each of these genes. We created an automated code using Visual Basic for Applications to automate this process in Excel.

We compiled a list of 142,232 new neurological disease-causing variants spanning 5,305 unique genes implicated in 38 neurological diseases. These diseases span categories including dementia-like, neurovascular, movement, neuromuscular, psychiatric, and other disorders. The variant type includes 97,131 missense/nonsense variants, 1,913 small indels, and the remaining 43,188 involve small deletions, small insertions, splicing, and others. 56,077 variants are implicated in autism, 49,687 are associated with epilepsy, and 32,741 are implicated in myopathy, with many genes and variants associated with diseases from several categories.

We have taken the next step to update the NeuroChip and make a platform available to those seeking to perform genetic testing of neurological disorders using a rapid and low-cost approach.