PMC4712281_01
Brain MRI and Sanger sequencing of APTX exons. A and B: Coronal T2-weighted (A) and sagittal T1-weighted (B) magnetic resonance images of the proband. Note the presence of pure cerebellar atrophy without involvement of the pons, medulla oblongata, or cerebral cortex. C: Electropherogram showing mutations in exons 3 and 5 of APTX. Mutation spots of c.359_360delAC (p.Asp120Lysfs2) and c.617C>T (p.Pro206Leu, rs121908131) are marked by a red bar.
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F1
A nerve conduction study and electromyography revealed sensorimotor axonal polyneuropathy, and brain magnetic resonance imaging revealed pure cerebellar atrophy without involvement of the pons, medulla oblongata, midbrain, or cerebral cortex (Fig. 1A and B). Sanger sequencing after PCR amplification of APTX revealed compound heterozygous mutations involving the deletion of two nucleotides (c.359_360delAC, p.Asp120Lysfs2) in exon 3, and a missense mutation (c.617C>T, p.Pro206Leu, rs121908131) in exon 5 (Fig. 1C).