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

Öztürk, GültenAyaz, AkifTopçu, YaseminAkyüz, GülcanÜnver, OlcayAkbeyaz, İsmailEkinci, GazanferTürkdoğan, Dilşad2022-06-172022-06-172022Öztürk, 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_210972-23271998-3549http://doi.org/10.4103/aian.aian_314_21https://hdl.handle.net/20.500.12511/9529Two 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.enAttribution-NonCommercial-ShareAlike 4.0 Internationalinfo:eu-repo/semantics/openAccessTorticollis AttacksPhenotypic VariabilitNeurodegenerationStress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patientsLetter25229229410.4103/aian.aian_314_21Q40008675929000352-s2.0-8513133684935693655Q3