Over 80% of people with REM sleep behaviour disorder (RBD) go on to develop an overt synucleinopathy, such as Parkinson disease (PD) or dementia with Lewy bodies (DLB). However, the precise role of variants in the SNCA gene, which encodes α-synuclein, has not been well studied. In new work, Lynne Krohn and colleagues analysed the association between SNCA and RBD in detail. The researchers sequenced SNCA in 1,076 patients with isolated RBD, 1,013 patients with PD, 415 patients with DLB, and 6,155 healthy controls. One variant in the 5′ region of SNCA was associated with RBD and was found to be in linkage disequilibrium with other variants in the same region that are associated with various synucleinopathies.
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Krohn, L. et al. Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Ann. Neurol. https://doi.org/10.1002/ana.25687 (2020)
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Fyfe, I. Detailed genetic link between REM sleep behaviour disorder and synucleinopathies. Nat Rev Neurol 16, 129 (2020). https://doi.org/10.1038/s41582-020-0327-5
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DOI: https://doi.org/10.1038/s41582-020-0327-5
