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Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

2023-08-05

Abstract excerpt

The cause of downbeat nystagmus (DBN) remains unknown in approximately 30% of patients (idiopathic DBN). Here, we hypothesized that: (i) FGF14 (GAA) ≥250 repeat expansions represent a frequent genetic cause of idiopathic DBN syndromes, (ii) are treatable with 4-aminopyridine (4-AP), and (iii) FGF14 (GAA) 200-249 alleles are potentially pathogenic. We conducted a multi-modal cohort study of 170 patients with i...

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Literature Corpus work
873ac73e-09fe-5c11-8b21-31e7f5c61f40
DOI
10.1101/2023.07.30.23293380
Open publication

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Intronic <i>FGF14</i> GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment responseDOI 10.1101/2023.07.30.23293380
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