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脊髓小脑共济失调27B型：34例患者的发作性症状及乙酰唑胺反应

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.

作者信息

Ashton Catherine, Indelicato Elisabetta, Pellerin David, Clément Guillemette, Danzi Matt C, Dicaire Marie-Josée, Bonnet Céline, Houlden Henry, Züchner Stephan, Synofzik Matthis, Lamont Phillipa J, Renaud Mathilde, Boesch Sylvia, Brais Bernard

机构信息

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC H3A 2B4, Canada.

Department of Neurology, Royal Perth Hospital, Perth, WA 6007, Australia.

出版信息

Brain Commun. 2023 Sep 10;5(5):fcad239. doi: 10.1093/braincomms/fcad239. eCollection 2023.

DOI:10.1093/braincomms/fcad239
PMID:37705681
原文链接:
https://pmc.ncbi.nlm.nih.gov/articles/PMC10495284/
Abstract

Ashton C 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.

摘要

阿什顿·C报告了一项来自加拿大、法国、奥地利和澳大利亚的34例27B型脊髓小脑共济失调患者的回顾性多中心队列研究，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无效的情况。

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