title: Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation.
abstract: Hereditary motor sensory neuropathy type VI (HMSN VI) is hereditary neuropathy accompanied by optic neuropathy. The feasibility of Coenzyme Q10 (CoQ10) as a treatment for subacute visual impairment of HMSN VI was examined. A 37-year-old patient with HMSN VI with a novel mitofusin 2 mutation was treated with high dose of CoQ10 (200 mg/day) for eight months. Visual impairment was partially resolved after CoQ10 therapy. High dose CoQ10 therapy may improve the prognosis of subacute visual impairment in HMSN VI. To confirm the effectiveness of CoQ10 on HMSN VI, further studies are needed.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Japan. ryo-tk@med.kanazawa-u.ac.jp
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Takahashi
authors.forename: Tokuhei
authors.initials: T
authors.lastname: Ikeda
authors.forename: Ayumi
authors.initials: A
authors.lastname: Hamaguchi
authors.forename: Kazuo
authors.initials: K
authors.lastname: Iwasa
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D020558:GTP Phosphohydrolases / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D020125:Mutation, Missense; D015418:Optic Atrophies, Hereditary / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D014451:Ubiquinone / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D014792:Visual Acuity / Q000187:drug effects; D014794:Visual Fields / Q000187:drug effects
chemical_list: D024101:Mitochondrial Proteins; D014451:Ubiquinone; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human; C024989:coenzyme Q10