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Using global team science to identify genetic Parkinson's disease worldwide.

Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25514. [Epub ahead of print]

Authors/Editors: Vollstedt EJ, Kasten M, Klein C; MJFF Global Genetic Parkinson's Disease Study Group (i.a. Winkelmann J )
Publication Date: 2019

Abstract

Talks on rare diseases in the field of neurology often start with a statement like this: “About 80% of all rare diseases have a neurologic manifestation and about 80% of those are genetic in origin”. Although these numbers probably represent more of an estimate than welldocumented evidence, rapidly advancing and cost-effective sequencing technologies have led to the quickly growing identification of patients with hereditary neurological diseases. While the importance of genetics for diagnosis and genetic counseling is undisputed, the recent development of first gene-targeted therapies entering clinical trial1,2 is adding an important new layer to the (re-)consideration of genetic testing in neurology. However, establishing accurate genotype-phenotype and genotype-treatment relationships requires large sample sizes. Systematic reviews can serve as instruments to combine information from several small samples, but unfortunately, this is often complicated by inconsistent and incomplete reporting of clinical and genetic data across studies. Thus, large multi-center approaches are necessary to systematically and uniformly characterize patients with genetic neurologic conditions and to eventually establish sizable clinical trial-ready cohorts.

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