Our congratulations to Dr. Ahmet Kaymak, from the BioRobotics Institute of Scuola Superiore Sant’Anna in Italy who has been selected as winner of the David Marsden Award 2025 for his paper: Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
Dr. Ahmet Kaymak
Edwige Ponseel, President of Dystonia Europe said “The Dystonia Europe patient community are very happy to give the award to Dr. Ahmet Kaymak for his research in dystonia, which may help to take the understanding of the causes of dystonia forward.”
Dr. Francesca Morgante explained further about this research: “Dr Kaymak analysed the brains of people with different types of genetic dystonias who underwent Deep Brain Stimulation surgery. His research shows that different types of genetic dystonia share the same abnormal brain activity pattern, offering new hope for personalised treatment with neuromodulation in people this type of dystonia. In addition, these results are relevant for the understanding of the mechanisms that generate dystonia in the brain, and might be applied to people without genetic dystonia.”
The award was presented by Professor (and former Vice President of Dystonia Europe) Maja Relja at the EAN Congress, during the Basal Ganglia session on Saturday 21st June in Helsinki in Finland.
DMA Winnere Dr. Ahmet Kaymak with Prof. Maja Relja
About the research:
Dystonia is a complex network disorder, and its inherited forms result from pathogenic mutations across a broad range of genes with diverse cellular functions. Genetic dystonia syndromes present highly variable clinical phenotypes, including age of onset, disease progression, symptom distribution, and psychiatric or cognitive features, as well as widely varying responses to deep brain stimulation (DBS) treatment.
In their study, Dr. Kaymak’s team investigated how the genetic background of dystonia shapes neural activity within the globus pallidum (the target brain region for DBS) and whether characterizing this activity helps explain the variability in treatment response observed across different genetic dystonia syndromes. To explore this, they collected intraoperative recordings from a patient cohort during DBS surgeries and analyzed neural activity using a comprehensive set of metrics capturing functional properties of neurons, including firing regularity, bursting patterns, and oscillatory activity.
Using a combination of multiple statistical and machine learning techniques, the team successfully stratified the pallidal neural activity associated with different dystonia-related genes into two principal groups: those exhibiting strong bursting behavior and those characterized by more regular firing patterns. Notably, their neural stratification of dystonia genes closely mirrors findings previously reported in clinical literature. Patients with mutations in genes such as THAP1 and PANK2 exhibited strong tonic/regular firing patterns and have been reported to show poor or inconsistent responses to DBS. In contrast, mutations in genes like GNAL and SGCE presented prominent bursting firing patterns and were associated with more favorable DBS outcomes. These clinical trends were also reflected significantly within their own patient cohort.
DBS is hypothesized to alleviate motor symptoms by disrupting pathologically synchronized neural activity and restoring more physiological patterns within motor circuits. Dr. Kaymak’s team further hypothesized that pathological synchronization in the dystonic globus pallidum is more effectively sustained by neurons exhibiting bursting behavior (brief episodes of intense activity followed by silence) rather than by neurons with regular firing. Consequently, genetic profiles associated with predominantly regular neural activity may lack sufficient abnormal synchronization, potentially making DBS treatment less effective. They proposed that exploring alternative neuromodulation strategies, such as targeting different brain regions or designing tailored stimulation protocols, may yield better treatment outcomes for these profiles.
Read more about the David Marsden Award, and past winners, here.
Monika Benson, Executive Director, Dystonia Europe
