AUTHOR=Lu Aijun , Dong Chunxia , Chen Bihong , Xie Lei , Hu Huaiqiang TITLE=Case Report: Stress-Induced Childhood-Onset Neurodegeneration With Ataxia-Seizures Syndrome Caused by a Novel Compound Heterozygous Mutation in ADPRHL2 JOURNAL=Frontiers in Neurology VOLUME=Volume 13 - 2022 YEAR=2022 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.807291 DOI=10.3389/fneur.2022.807291 ISSN=1664-2295 ABSTRACT=ADPRHL2 gene mutations are correlated with Stress-Induced Childhood-Onset Neurodegeneration with Ataxia - Seizures Syndrome (CONDSIAS), Which is an autosomal recessive genetic disease, showing abnormal gait, degradation of intelligence, seizures, ataxia, other nervous system degenerative diseases and axon sensorimotor neuropathy. It was first reported in 2018, and gene were all diallelic homozygous mutations. We reported a case of CONDSIAS with a compound heterozygous mutation of ADPRHL2 gene presenting with autonomic nervous abnormalities, found unreported electrophysiological and pathological features with demyelination, myogenic lesions, and type I myofibrils atrophy