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