CONDSIAS, a Stress-Triggered Childhood Neurodegeneration: Four Novel ADPRS Variants and a Structured Review of the Reported Phenotype

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06 Nov 2026 0 comments

Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), Online Mendelian Inheritance in Man (OMIM) 618,170, is an autosomal-recessive disorder caused by biallelic ADPRS (ADPRHL2) variants, encoding ADP-ribosylserine hydrolase (ARH3). Its stress-precipitated, stepwise course may resemble pediatric mitochondrial disease, delaying diagnosis. Four unrelated pediatric probands from three Italian tertiary centers were characterized retrospectively and integrated...