Abstract
BackgroundThe 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).MethodsClinical rating scales (SARA; 9 holes peg test; 6 min walking test; Timed 25-Foot Walk) and videoelectronic gait analysis were performed at baseline and every 6 months (T0, T1, T2) to evaluate the motor performances. Since two patients discontinued the treatment at the 7th month, we could provide comparative analysis between longer and shorter supplementation.ResultsAt T2, the gait speed (Timed 25-Foot Walk test) significantly differed between patients with long and short treatment; overall, the clinical condition tended to be better in patients continuing CoQ10.ConclusionsAlthough preliminarily, this observation suggests that only prolonged and continuous CoQ10 supplementation may induce mild clinical effects on general motor features of ARCA2. Dedicated trials are now necessary to extend and validate such observation.
Highlights
The recessive ataxia Autosomal Recessive Cerebellar Ataxia 2 (ARCA2) is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene
We describe the prospective observation of four untreated ARCA2 patients undergoing standard oral CoQ10 supplementation and systematic evaluation of motor functions by both clinical scores and videoelectronic gait analysis, aiming to outline preliminary but necessary points for the development of dedicated trials
Patients 1–2 discontinued in the 7th month (“short treatment”, Short treatment (ST)), because of gastrointestinal disturbances and poor subjective improvement
Summary
The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Available data are not univocal on clinical efficacy of CoQ10 supplementation in ARCA2. ARCA2 is due to biallelic mutations of ADCK3 gene, which encodes for a UbiB family kinase, involved in biosynthesis of Coenzyme Q10 (CoQ10), an electron carrier and endogenous antioxidant. ADCK3 variants are responsible for a primary CoQ10 deficiency, which may play a role in the pathogenesis of the disease; several other contributors have been considered, such as the mitochondrial dysfunction or the alteration of neurotransmitters metabolism [3]. The clinical response has been described as inconstant, unpredictable and variable among patients [1, 4], the genetic background may have a role [3]. The unbiased therapeutic efficacy of such intervention can not be established
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