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Article

High Prevalence of the Intronic GAA- FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia

25 Feb 2025

Abstract excerpt

Background and Objectives: repeat expansions using a combination of long-range PCR (LR-PCR) and repeat-primed PCR (RP-PCR) and assessed their clinical presentation. Methods: were collected retrospectively. Results: repeat expansion was identified in 28 patients, resulting in a total diagnostic yield of 11%. These patients commonly presented with late-onset gait ataxia, vertigo, and nystagmus. Nine individuals had...

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PMID: 40017559
DOI: 10.1212/nxg.0000000000200244

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