类维生素物质可显著改善肌肉障碍患者

纽约，纽约——2001年4月9日——一种类似维生素的物质可能会给一些患有遗传性共济失调(大脑和肌肉功能障碍，破坏胳膊、腿和语言的平衡和协调)的罕见疾病家族的患者带来新的希望。哥伦比亚大学的研究人员报告说，6名遗传性共济失调患者在服用一种叫做辅酶Q10 (CoQ10)的物质后，病情大为好转。一旦轮椅上的病人在一些帮助下再次行走，一位妇女第一次能够在她的家外面工作。这项研究发表在《神经病学》(Neurology) 4月刊上，由哥伦比亚大学内外科医学院(Columbia University College of Physicians & Surgeons)的露西·g·摩西(Lucy G. Moses)神经病学教授Salvatore DiMauro博士领导，纽约曼哈塞特北岸大学医院(North Shore University Hospital, Manhasset)参与;埃默里大学，亚特兰大，乔治亚州;俄亥俄州哥伦布儿童医院;俄亥俄州立大学。DiMauro博士和他的同事们发现，一些患有无法解释的遗传性共济失调的患者有严重的CoQ10缺陷。CoQ10，也被称为泛素酮，是人体细胞从氧气中获取能量的系统的天然成分。这解释了许多病人的虚弱和缺乏协调。 “We decided to try giving these people CoQ10,” Dr. DiMauro said, and “their physical therapist saw a response that was so dramatic that she increased the dose very high. These patients really improved.” One 17-year-old girl came from India for diagnosis and treatment, and she is now able to work outside her home for the first time in her life, in a computer store in New York, Dr. DiMauro said. A panel of Columbia researchers watched videotapes of three siblings taken at several points before and after receiving the therapies. The researchers agreed that their improvements were too dramatic to be explained by a placebo effect. The patients took CoQ10 in doses ranging from 300 mg to 3,000 mg. One year after starting treatment they had improved by an average of 25 percent on an ataxia test of balance, speech, and movement. Before starting the therapy, five of the patients couldn’t walk; afterward, all could walk with some assistance, such as a rolling walker. Dr. DiMauro said future research will focus on pinpointing why these patients are CoQ10-deficient. CoQ10 preparations are available in health food stores but are expensive. Hereditary ataxias are a wide family of disorders with a plethora of causes. Some have known genetic causes, but others are unexplained. The variants with known genetic causes are probably not candidates for the CoQ10 treatment because their causes have nothing to do with CoQ10, Dr. DiMauro said. But this remains to be confirmed through research. For the moment, it appears the CoQ10 treatment is best suited for patients with unexplained forms of ataxia. This is a fair number of patients, Dr. DiMauro said; just how many is unknown, as their numbers haven’t been ascertained through epidemiological studies. “This may not be rare,” he added. Neurologists “often tell me that there are patients who do not fall into one of the identified genetic categories.” The study was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and The Muscular Dystrophy Association.

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