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

ABSTRACT: 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 European ancestry to identify genetic variants associated with DBN. A genome-wide significant association (p?

SUBMITTER: Strupp M

PROVIDER: S-EPMC7198638 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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

Strupp Michael M Maul Stephan S Konte Bettina B Hartmann Annette M AM Giegling Ina I Wollenteit Sophia S Feil Katharina K Rujescu Dan D

Cerebellum (London, England) 20200601 3

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 European ancestry to identify genetic variants associated with DBN. A genome-wide significa ...[more]

PMID: 32157568

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