Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients

Abstract

Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, cerebral‑cerebellar atrophy, neurogenic changes, sensorineural hearing loss, nystagmus, and dystonic ataxia have been reported and intrafamilial phenotypic variability has been defined in the literature.[2] Paroxysmal torticollis attacks have not been reported before.