VJNeurology is committed to improving our service to you

Share this video  

VJNeurology is committed to improving our service to you

CONy 2022 | Advances in the genetics of Parkinson’s disease

Heinz Reichmann, MD, PhD, University of Dresden, Dresden, Germany, discusses recent advancements in Parkinson’s disease (PD) genetics research. Up until now, most PD research has concentrated on monogenetic abnormalities. However, novel research suggests that multiple polymorphisms are involved in the development of PD. Researching monogenetic derived Parkinson’s syndromes has brought several insights into the disease pathophysiology. For example, alpha-synuclein accumulation is possibly the most important abnormality: dysfunction of this protein is found in almost all PD patients, and it is thought to cause PD. Future therapies should focus on stopping the accumulation of alpha-synuclein. Another example of the importance of genetic learnings in PD is the occurrence of early-onset PD, which is often related to certain genetic abnormalities. Previously, young PD patients were often misdiagnosed, causing uncertainty and mental/mood problems. Nowadays, genetic analysis is helpful to reach a proper diagnosis. A more recent finding shows that these patients do not respond to dopamine replacement therapy and have early cognitive problems. We are now learning that such patients may suffer from a glucocerebroside gene defect. This betters our understanding of the broad forms of PD and may lead to an advancement in treatments. This interview was conducted during the 2022 World Congress on Controversies in Neurology (CONy) meeting.


Prof. Reichmann was acting on Advisory Boards and gave lectures and received research grants within the last 5 years from Bial, Desitin, Eisai, Kyowa-Kirin, Merz, Novartis, UCB Pharma, Zambon.