The identification of these families expands the clinical phenotype associated with ADPRHL2 mutations from a neurodegenerative central nervous system phenotype with ataxia, epilepsy and neurodevelopmental delay (CONDSIAS) to a phenotype that has a striking peripheral neuropathy as its core component among several other features. Here, ADPRS is linked to neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.