Catherine Ashton, Elisabetta Indelicato, David Pellerin, Guillemette Clément, Matt C Danzi, Marie-Josée Dicaire, Céline Bonnet, Henry Houlden, Stephan Züchner, Matthis Synofzik, Phillipa J Lamont, Mathilde Renaud, Sylvia Boesch, Bernard Brais
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引用次数: 0
摘要
Ashton C 等人报告了一项多中心回顾性队列研究，研究对象是来自加拿大、法国、奥地利和澳大利亚的 34 名脊髓小脑共济失调 27B 患者，描述了发作性共济失调和其他发作性特征的共同特点，以及乙酰唑胺对这些患者的无效性。
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients.
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