Article

Stress-Induced Childhood-Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Can Include Severe Primary Hypogonadism

2026-08-17

Abstract excerpt

Pathogenic variants in ADPRS, encoding ADP-ribosylhydrolase 3 (ARH3), cause stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS; OMIM: 618170), an ultra-rare autosomal recessive disorder with fewer than 61 reported cases worldwide. Here we report a previously undiagnosed 36-year-old who we analysed using trio exome sequencing analysis. We identified a homozygous pathogenic...

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Literature Corpus work: 51bd5bb2-43cc-5527-8647-7035681d6c5b
DOI: 10.20944/preprints202608.1106.v1

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