Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.
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 Q10levels 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 by15O2PET, 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.
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Jun
J
Mitsui
Department of Neurology, Shirahama Hamayu Hospital, Wakayama, Japan.
Ken
K
Koguchi
Department of Radiology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Toshimitsu
T
Momose
Department of Radiology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Miwako
M
Takahashi
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Takashi
T
Matsukawa
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Tsutomu
T
Yasuda
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Shin-Ichi
SI
Tokushige
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Hiroyuki
H
Ishiura
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.
Jun
J
Goto
Department of Neurology, Shirahama Hamayu Hospital, Wakayama, Japan.
Shigeaki
S
Nakazaki
Department of Neurology, Rehabilitation Hananoie Hospital, Tochigi, Japan.
Tomoyoshi
T
Kondo
Department of Neurology, Wakayama Medical University, Wakayama, Japan.
Hidefumi
H
Ito
School of Bioscience and Biotechnology, Tokyo University of Technology, Tokyo, Japan.
Yorihiro
Y
Yamamoto
Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan. tsuji@m.u-tokyo.ac.jp.
Shoji
S
Tsuji
D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000188:drug therapy* / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000235:genetics / Q000378:metabolism / Q000494:pharmacology
D014451:Ubiquinone; C024989:coenzyme Q10; C025204:Ubiquinone Q2; C003741:ubiquinol
COQ2; Coenzyme Q10; Multiple system atrophy; Ubiquinol