One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

Abstract Background 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...

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Main Authors: Tommaso Schirinzi, Martina Favetta, Alberto Romano, Andrea Sancesario, Susanna Summa, Silvia Minosse, Ginevra Zanni, Enrico Castelli, Enrico Bertini, Maurizio Petrarca, Gessica Vasco
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Cerebellum & Ataxias
Subjects:
Online Access:https://doi.org/10.1186/s40673-019-0109-2