Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures

Definition:

Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (CONDSIAS) is a rare autosomal recessive epilepsy-ataxia syndrome initiating with sudden severe seizures. Disease progress was variable but frequently associated with periods of increased stress, such as infections. It has been reported that biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, cause CONDSIAS.

References:

[1]. Katharina Danhauser, et al. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet. 2018 Nov 1;103(5):817-825. [Content Brief]

[2]. Shereen G Ghosh, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. Am J Hum Genet. 2018 Sep 6;103(3):431-439. [Content Brief]

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