rs113420566 - NAALADL2 - ACTG1P23

Magnitude 4.5 · 1 study on file

Reported associations

• A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study - Unknown journal (n.d.) · Unknown authors · PubMed 32157568

  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 < 5 × 10−8) with DBN was found for a variation on chromosome 13 located within the fibroblast growth factor 14 gene (FGF14). FGF14 is expressed in Purkinje cells (PCs) and a reduction leads to a decreased spontaneous firing rate and excitability of PCs, compati

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