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Article

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.

Cerebellum (London, England) - 1 Jun 2020

Strupp Michael, Maul Stephan, Konte Bettina, Hartmann Annette M, Giegling Ina, Wollenteit Sophia, Feil Katharina, Rujescu Dan

Abstract excerpt

Downbeat nystagmus (DBN) is a frequent form of acquired persisting central fixation nystagmus, often associated with other cerebellar ocular signs, such as saccadic smooth pursuit or gaze-holding deficits. Despite its distinct clinical features, the underlying etiology of DBN often remains unclear. Therefore, a genome-wide association study (GWAS) was conducted in 106 patients and 2609 healthy controls of...

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Identifiers

PMID: 32157568
DOI: 10.1007/s12311-020-01113-x
PMCID: PMC7198638

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