The role of the neurologist in the diagnostic route of HSP and cerebellar ataxias in the next generation sequencing era: A single center experience

Abstract

The molecular characterization of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) is challenged by their clinical and molecular heterogeneity. The recent application of NGS technologies is increasing the diagnostic rate, which can be also influenced by patients' selection.