Here, we show that a 68-year-old male with ataxia and atrophy of the medulla oblongata, upper cervical cord and the cerebellar hemispheres on brain MRI harbors a p.Asp128Asn GFAP mutation. Furthermore, we demonstrate that the p.Asp128Asn mutation induces more GFAP aggregations in zebrafish embryos than WT GFAP, suggesting that this mutation may cause AxD.