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. 2023 Aug 28;9(5):e200094. doi: 10.1212/NXG.0000000000200094

Figure. Allele Distribution and Genetic Analysis of the FGF14 GAA Repeat Locus.

Figure

(A) Allele distribution of the FGF14 repeat locus in 94 Brazilian patients with unsolved adult-onset ataxia. The repeat length was measured by capillary electrophoresis of fluorescent long-range PCR amplification products. The allele sizes are expressed in numbers of triplet repeat units. Expanded alleles consisting of non-GAA repeats are represented by red triangles. The dashed red line indicates the pathogenic threshold of at least 250 GAA repeat units. The bold dashed black line within the violin plot shows the median allele size. (B) Fragment length analysis results of patient 1.1 carrying an expanded allele of 253 GAA repeat units. (C and D) Results of repeat-primed PCR targeting the (C) 3′-end and (D) 5′-end of the FGF14 repeat locus in patient 1.1. (E) Excerpt of Sanger sequencing chromatogram showing the GAA motif of the expanded allele of patient 1.1.