4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience
Author:
Funder
IMPRS-IS
Else Kröner-Fresenius-Stiftung
Universitätsklinikum Tübingen
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Link
https://link.springer.com/content/pdf/10.1007/s00415-023-11868-y.pdf
Reference25 articles.
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3. Pellerin D, Danzi MC, Wilke C et al (2023) Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 388(2):128–141
4. Rafehi H, Read J, Szmulewicz DJ et al (2023) An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. Am J Hum Genet 110(1):105–119
5. Strupp M, Teufel J, Zwergal A, Schniepp R, Khodakhah K, Feil K (2017) Aminopyridines for the treatment of neurologic disorders. Neurol Clin Pract 7(1):65–76
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1. Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B);Annals of Neurology;2024-09-12
2. Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27B;Movement Disorders;2024-07
3. Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort;Journal of Neurology;2024-06-17
4. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort;eBioMedicine;2024-04
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