Acetazolamide/fampridine

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Lack of efficacy: case report A 47-year-old woman exhibited lack of efficacy during treatment with acetazolamide and fampridine for episodic ataxia (EA) type 2. The woman, from the age of 17 years suffered from recurrent EA attacks typically triggered by emotional stress and were accompanied by headache, postural imbalance and rarely nausea. Interictally she felt permanently dizzy and postural unstable. Subsequently, genetic testing uncovered a novel heterozygous variant (mutation) in exon 16 of the CACNA1A gene causing EA type 2. Then, she started receiving treatment with acetazolamide and fampridine [4-aminopyridine; dosages and routes not stated]. Unfortunately, the symptomatic standard treatment with acetazolamide and fampridine was not effective. Penkava J, et al. A novel CACNA1A gene mutation causing Episodic Ataxia Type 2. European Journal of Neurology 27 (Suppl. 1): 244 (plus poster) abstr. EPR1223, May 803498385 2020. Available from: URL: https://onlinelibrary.wiley.com/toc/14681331/2020/27/S1 [abstract]

0114-9954/20/1819-0001/$14.95 Adis © 2020 Springer Nature Switzerland AG. All rights reserved

Reactions 29 Aug 2020 No. 1819

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