TY - JOUR AU - Schirinzi, Tommaso AU - Favetta, Martina AU - Romano, Alberto AU - Sancesario, Andrea AU - Summa, Susanna AU - Minosse, Silvia AU - Zanni, Ginevra AU - Castelli, Enrico AU - Bertini, Enrico AU - Petrarca, Maurizio AU - Vasco, Gessica PY - 2019 DA - 2019/12/16 TI - One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2) JO - Cerebellum & Ataxias SP - 15 VL - 6 IS - 1 AB - The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on clinical efficacy of CoQ10 supplementation in ARCA2. Here we described the long-term motor outcome of 4 untreated ARCA2 patients prospectively followed-up for one year after starting CoQ10 oral supplementation (15 mg/kg/day). SN - 2053-8871 UR - https://doi.org/10.1186/s40673-019-0109-2 DO - 10.1186/s40673-019-0109-2 ID - Schirinzi2019 ER -