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安德烈·巴博与法裔加拿大及北美地区的眼咽型肌营养不良症

André Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America.

作者信息

Bouchard J P

机构信息

Université Laval et Département des Sciences Neurologiques, Hôpital de l'Enfant-Jésus, Québec, Canada.

出版信息

Neuromuscul Disord. 1997 Oct;7 Suppl 1:S5-11. doi: 10.1016/s0960-8966(97)00074-6.

Abstract

André Barbeau (1931-1986) is best known world-wide in the neurologic community for his contributions to the study of Parkinson's disease, Huntington's chorea and Friedreich's ataxia. But in Québec, Canada, his name is associated with oculopharyngeal muscular dystrophy (OPMD), often called here 'maladie de Barbeau', on which he conducted a series of genealogic, genetic and clinical studies early in his career, most intensively from 1964 to 1966. He then demonstrated that most of the reported cases in North America could be traced back to French-Canadian ancestors. Furthermore, he identified this ancestor couple and linked them with a probable case in Niort, in France. Because he was the first to see over a hundred patients, his clinical studies were definitive. He did little work on OPMD after 1967 when he rushed back to the study of L-DOPA in the treatment of Parkinson's disease, a work that he had previously so brilliantly pioneered.

摘要

安德烈·巴博(1931 - 1986)在神经学界闻名全球,因其对帕金森病、亨廷顿舞蹈症和弗里德赖希共济失调研究的贡献。但在加拿大魁北克,他的名字与眼咽型肌营养不良症(OPMD)相关,此地常称其为“巴博病”,他在职业生涯早期就对其开展了一系列系谱、遗传和临床研究,1964年至1966年期间研究最为深入。他随后证明,北美报告的大多数病例可追溯到法裔加拿大祖先。此外,他确定了这对祖先夫妇,并将他们与法国尼奥尔的一个可能病例联系起来。由于他是首个诊治过百名患者的人,他的临床研究具有决定性意义。1967年后,他便很少再研究OPMD,转而全力投入左旋多巴治疗帕金森病的研究,此前他已在该领域取得卓越开创性成果。

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