Institute of Neurogenetics, University of Lübeck, Marie-Curie-Straße 1, 23562, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany; Center for Brain, Behavior, and Metabolism, University of Lübeck, Marie-Curie-Straße 2, 23562, Lübeck, Germany.
Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany; Center for Brain, Behavior, and Metabolism, University of Lübeck, Marie-Curie-Straße 2, 23562, Lübeck, Germany.
Parkinsonism Relat Disord. 2022 Jun;99:91-95. doi: 10.1016/j.parkreldis.2022.05.008. Epub 2022 May 19.
Primary coenzyme Q10 (CoQ10) deficiency, a recessive disorder associated with various defects of CoQ10 biosynthesis and widely varying clinical presentation, is customarily managed by oral Q10 supplementation but the benefit is debated.
To address this question, we mapped individual responses in two patients with COQ8A-related ataxia following coenzyme Q10 supplementation using noninvasive imaging. Metabolic phosphorus magnetic resonance spectroscopy imaging (P-MRSI) and volumetric cerebellar neuroimaging were performed to quantify the individual treatment response in two patients with COQ8A-related ataxia, each compared with eight age- and gender-matched healthy control subjects.
Post-treatment change in energy metabolite levels differed in the two patients, with higher energy levels and improved dysarthria and leg coordination in one, and decreased energy levels without clinical benefit in the other.
Our results suggest that the cerebellar bioenergetic state may predict treatment response in COQ8A-related ataxia and highlight the potential of pathophysiology-orientated neuroimaging evidence to inform treatment decisions.
原发性辅酶 Q10（CoQ10）缺乏症是一种与 CoQ10 生物合成各种缺陷相关的隐性疾病，临床表现广泛，通常通过口服 CoQ10 补充剂进行治疗，但疗效存在争议。
为了解决这个问题，我们使用非侵入性成像技术对两名 COQ8A 相关性共济失调患者在辅酶 Q10 补充后的个体反应进行了映射。对两名 COQ8A 相关性共济失调患者进行代谢磷磁共振波谱成像（P-MRSI）和容积性小脑神经成像，以定量评估每个患者的个体治疗反应，并与 8 名年龄和性别匹配的健康对照者进行比较。
两名患者的能量代谢物水平的治疗后变化不同，一名患者的能量水平较高，构音障碍和腿部协调能力改善，另一名患者的能量水平降低，且无临床获益。
我们的结果表明，小脑生物能量状态可能预测 COQ8A 相关性共济失调的治疗反应，并强调了基于病理生理学的神经影像学证据在指导治疗决策方面的潜力。
