Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.
Cerebellum
; 16(3): 664-672, 2017 06.
Article
en En
| MEDLINE
| ID: mdl-28150130
ABSTRACT
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Ubiquinona
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Atrofia de Múltiples Sistemas
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Mutación
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Idioma:
En
Revista:
Cerebellum
Año:
2017
Tipo del documento:
Article
País de afiliación:
Japón