Project description:
Ataxias are diseases of the cerebellum whose degradation processes lead to multiple limitations in everyday living - and where not only the molecular causes are often unknown, but also targeted therapies are still largely lacking. Now, with substantial contribution of the Else Kröner Forschungskolleg PRECISE.net in Tübingen, it has first been possible to identify a specific genetic cause - so-called GAA repeat expansions in the FGF14 gene (SCA27B) - as one of the most common genetic causes of ataxia in many countries worldwide (Pellerin et al, 2023, NEJM). In the next step, the team of the Else Kröner Forschungskolleg has now been able to take the first steps towards preparing clinical trials and identifying targeted therapies for this novel, common ataxia disorder. Leveraging a large cohort of 51 patients with longitudinal follow-up, Wilke et al. characterise the exact clinical profile of this new ataxia, present quantitative longitudinal data on the natural history of the disease, and show for the first time that there is a therapeutic response to the drug 4-aminopyridine, which is already available on the market. This work thus paves the way for larger, worldwide studies on the natural history of this new ataxia and, in particular, for larger therapeutic studies.
Publication:
Carlo Wilke, David Pellerin, David Mengel, Andreas Traschütz, Matt C Danzi, Marie-Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, RFC1 study group, Stephan Züchner, Ludger Schöls, Bernard Brais, Matthis Synofzik. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain. 2023.
Submitting the Paper of the Month:
Else Kröner-Fresenius-Stiftung is using the series “Paper of the Month” to report in an exemplary and hot-off-the-press style on the outstanding work being done by the scientists it supports. We regularly present publications which have recently appeared in especially renowned journals, have emerged from foundation funding and been given appropriate acknowledgment. This is done in the respective categories “Original Paper” and “Review”. In the case of each of these publications, the first author and/or senior author are being funded by the foundation.
We invite all project managers, fellowship recipients and members of graduate study programs to send their work in accordance with the stated criteria as proposal for Paper of the Month to Ms. Anne Asschenfeldt (a.asschenfeldt@ekfs.de).
