Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations

• DOI: 10.1007/s12311-017-0846-9
• Publication Date: 2017-02-01T09:58:26Z
• Authors: Jun Mitsui; Ken Koguchi; Toshimitsu Momose; Miwako Takahashi; Takashi Matsukawa; Tsutomu Yasuda; Shin-ichi Tokushige; Hiroyuki Ishiura; Jun Goto; Shigeaki Nakazaki; Tomoyoshi Kondo; Hidefumi Ito; Yorihiro Yamamoto; Shoji Tsuji
• Keywords: Medicine(all); Male; Original Paper; Ubiquinone; Middle Aged; Multiple System Atrophy; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Mutation; Humans; Follow-Up Studies

We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2. A high-dose ubiquinol supplementation substantially increased total coenzyme Q10 levels in cerebrospinal fluid as well as in plasma. The patient was at the advanced stage of MSA, and the various scores of clinical rating scales remained stable without changes during the 3 years. The cerebral metabolic ratio of oxygen measured by 15O2 PET, however, increased by approximately 30% after administration of ubiquinol, suggesting that ubiquinol can improve mitochondrial oxidative metabolism in the brain. It also suggests the therapeutic potential of ubiquinol for patients with MSA with COQ2 mutations. Further clinical trials of administration of high-dose ubiquinol to MSA patients are warranted.