PMC:5590178 / 15450-16510 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T47","span":{"begin":838,"end":851},"obj":"Phenotype"}],"attributes":[{"id":"A47","pred":"hp_id","subj":"T47","obj":"http://purl.obolibrary.org/obo/HP_0001347"}],"text":"The brain MR images revealed marked atrophy of the medulla oblongata and upper cervical cord, and mild atrophy of the cerebellar hemisphere on both sagittal T2- and T1-weighted images (Fig. 1c and d, respectively). Moreover, fluid-attenuated inversion recovery (FLAIR) imaging illustrated hyperintense lesions in the bilateral cerebellar dentate nuclei (Fig. 1e). These MRI findings suggested adult AxD. Therefore, we had the proband’s GFAP sequenced and found a heterozygous mutation, c.382G \u003e A, which was absent in the GFAP sequences from 200 normal controls. This substitution was predicted to lead to p.Asp128Asn (Fig. 1f and g). Sequencing of the GFAP of the proband’s family members suggested Mendelian inheritance of the mutation (Fig. 1b). Out of the other family members with p.Asp128Asn, subjects II.3, III.2, and III.5 showed hyperreflexia of the upper and lower extremities with positive Babinski and Hoffman signs and without evidence of neurological symptoms (Fig. 1b), indicating early stage of adult onset AxD or various degrees of penetrance."}