The effect of Minocycline on patient with Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)

Background: Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is a progressive neurological disorder for which there is currently no known treatment. Therefore, it is important that we identify a medication that can stop the progression of the disease and improve the patient's condition. Here, we assess the effects of Minocycline on a patient with CONDSIAS syndrome. Methods: We describe a ۴-year-۸-month-old male with clinical features consistent with CONDSIAS and a homozygous ADPRHL۲ variant (c.۲۳۵AC; p.T۷۹P). Comprehensive clinical evaluation, targeted Sanger sequencing were performed. Finally, we assess the effect of Minocycline Results: Following the administration of Minocycline, the patient's regression stopped, and he showed improvement, especially on the motor skills. No adverse effects were observed. Conclusion: Our study revealed that Minocycline may stop the regression of patients with CONDSIAS syndrome.

کلیدواژه ها:

ADPRHL۲ ، ARH۳ ، CONDSIAS Syndrome ، Minocycline