Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) Presenting with Torticollis Attacks
Gülten Öztürk, Akif Ayaz, Yasemin Topçu, Gülcan Akyüz, Olcay Ünver, Ismail Hakk Akbeyaz, Gazanfer Ekinci, Dilşad Türkdoğan
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
Topics & Concepts
MedicineNeurodegenerationAtaxiaEpilepsySensorineural hearing lossAtrophyNeuroscienceIntellectual disabilityTorticollisPediatricsHearing lossAudiologyPathologyPsychiatrySurgeryPsychologyDiseaseGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyDNA Repair Mechanisms