Background: Neurological disorders are a highly heterogeneous group of pathological
conditions that affect both the peripheral and the central nervous system. These pathologies are characterized
by a complex and multifactorial etiology involving numerous environmental agents and genetic
susceptibility factors. For this reason, the investigation of their pathogenetic basis by means of
traditional methodological approaches is rather arduous. High-throughput genotyping technologies,
including the microarray-based comparative genomic hybridization (aCGH), are currently replacing
classical detection methods, providing powerful molecular tools to identify genomic unbalanced structural
rearrangements and explore their role in the pathogenesis of many complex human diseases.
Methods: In this report, we comprehensively describe the design method, the procedures, validation,
and implementation of an exon-centric customized aCGH (NeuroArray 1.0), tailored to detect both
single and multi-exon deletions or duplications in a large set of multi- and monogenic neurological
diseases. This focused platform enables a targeted measurement of structural imbalances across the
human genome, targeting the clinically relevant genes at exon-level resolution.
Conclusion: An increasing use of the NeuroArray platform may offer new insights in investigating
potential overlapping gene signatures among neurological conditions and defining genotypephenotype