Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
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KünyeÖztürk, G., Ayaz, A., Topçu, Y., Akyüz, G., Ünver, O., Akbeyaz, İ. ... Türkdoğan, D. (2022). Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients. Annals of Indian Academy of Neurology, 25(2), 292-294. http://doi.org/10.4103/aian.aian_314_21
Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented. 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. Paroxysmal torticollis attacks have not been reported before.