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

Article

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

Cerebellum (London, England) - 1 Jun 2017

Mitsui Jun, Koguchi Ken, Momose Toshimitsu, Takahashi Miwako, Matsukawa Takashi, Yasuda Tsutomu, Tokushige Shin-Ichi, Ishiura Hiroyuki, Goto Jun, Nakazaki Shigeaki, Kondo Tomoyoshi, Ito Hidefumi, Yamamoto Yorihiro, Tsuji Shoji

Abstract excerpt

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...

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