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Coenzyme Q10 Therapy in Hereditary Motor Sensory Neuropathy Type VI with Novel Mitofusin 2 Mutation

机译：Coenzyme Q10 Therapy in Hereditary motor sensory Neuropathy Type VI with Novel mitofusin 2 mutation

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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.

机译：VI型遗传性运动感觉神经病（HMSN VI）是伴有视神经病的遗传性神经病。研究了辅酶Q10（CoQ10）用于治疗HMSN VI的亚急性视力障碍的可行性。对37岁HMSN VI伴有新丝裂霉素2突变的患者进行了高剂量CoQ10（200 mg /天）的治疗持续八个月。CoQ10治疗后视力障碍得以部分缓解。高剂量CoQ10治疗可改善HMSN VI亚急性视力障碍的预后。为了确认辅酶Q10在HMSN VI上的有效性，需要进一步的研究。

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Takahashi, Ryoichi; Ikeda, Tokuhei; Hamaguchi, Ayumi; Iwasa, Kazuo; Yamada, Masahito;
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1. Anesthetical Management of a Patient with Hereditary Muscle Sensory Neuropathy Type 2: Case of a 17-Year Old with Sacral Dermoid and a Short Overview of the Anesthesiological Considerations [J] . Martin Lasič, Ana Lasič, Caroline Oberleitner, 麻醉学期刊（英文） . 2021,第001期
2. Analysis of Mitochondrial Gene Mutations in Chinese Pedigrees of Leber's Hereditary Optic Neuropathy [J] . Ling Lin, Yikai Chen, Yi Tong, 眼科学报（英文版） . 2002,第003期
3. Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation [J] . TakahashiR., IkedaT., HamaguchiA., Internal medicine. . 2012,第7期

机译：辅酶Q10治疗具有新的mitofusin 2突变的遗传性运动感觉神经病VI型
4. Coenzyme Q10 Therapy in Hereditary Motor Sensory Neuropathy Type VI with Novel Mitofusin 2 Mutation [J] . Ryoichi Takahashi, Tokuhei Ikeda, Ayumi Hamaguchi, Internal medicine. . 2012,第7期

机译：新型Mitofusin 2突变的遗传性运动感觉神经病VI型辅酶Q10治疗。
5. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. [J] . Vallat JM, Ouvrier RA, Pollard JD, Journal of Neuropathology and Experimental Neurology: Official Journal of the American Association of Neuropathologists, Inc . 2008,第11期

机译：在儿童早期发作的线粒体型遗传性运动和感觉神经病的组织病理学发现与mitofusin 2突变有关。
6. Coenzyme Q10 Loaded PLGA Nanoparticles for Oral Cancer Therapy: Assessment of Antioxidant's Potential Against a Standard Chemotherapeutic Agent Paclitaxel [C] . P.P. Ankola, V. Bhardwaj, M.N.V. Ravi Kumar Controlled Release Society Annual Meeting and Exposition . 2007

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7. Glycyl-tRNA synthetase mutations cause Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V: A potentially novel disease mechanism for human peripheral neuropathies. [D] . Antonellis, Anthony. 2005

机译：糖基-tRNA合成酶突变导致2D型Charcot-Marie-Tooth病和V型远端脊髓性肌萎缩症：人类周围神经病的潜在新型疾病机制。
8. Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review. [O] . G Nicholson 1995

机译：遗传性运动和感觉神经病的髓磷脂基因剂量和突变：综述。
9. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. [O] . Vallat, Jean-Michel, Ouvrier, Robert A, Magdelaine, Corinne, 2008

机译：在儿童早期发作的线粒体型遗传性运动和感觉神经病的组织病理学发现与mitofusin 2突变有关。

Coenzyme Q10 Therapy in Hereditary Motor Sensory Neuropathy Type VI with Novel Mitofusin 2 Mutation

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