PMC:5590178 / 22612-22969 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T51","span":{"begin":43,"end":49},"obj":"Phenotype"}],"attributes":[{"id":"A51","pred":"hp_id","subj":"T51","obj":"http://purl.obolibrary.org/obo/HP_0001251"}],"text":"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."}