PMC:5097349 / 7772-8905 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T22","span":{"begin":676,"end":682},"obj":"Phenotype"},{"id":"T23","span":{"begin":812,"end":829},"obj":"Phenotype"},{"id":"T24","span":{"begin":1011,"end":1032},"obj":"Phenotype"},{"id":"T25","span":{"begin":1073,"end":1096},"obj":"Phenotype"}],"attributes":[{"id":"A22","pred":"hp_id","subj":"T22","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A23","pred":"hp_id","subj":"T23","obj":"http://purl.obolibrary.org/obo/HP_0010530"},{"id":"A24","pred":"hp_id","subj":"T24","obj":"http://purl.obolibrary.org/obo/HP_0012332"},{"id":"A25","pred":"hp_id","subj":"T25","obj":"http://purl.obolibrary.org/obo/HP_0001278"}],"text":"This case with AxD is characterized by typical clinical and MRI findings, especially with family history and adult onset. The heterozygous missense mutation in the GFAP gene, c.1246C \u003e T, p.R416W was identified, which was already shown to be pathogenic in adult onset AxD [2, 3]. It has been reported that adult AxD has various clinical courses. Most cases have a subacute onset and gradually progressive course [2], but some present an acute onset [4]. There is no gender difference. About half of the cases is familial, consistent with autosomal dominant transmission. The mean age of onset is usually in the late thirties. Our patient had pseudobulbar, spastic paresis and ataxia, which are acknowledged as the cardinal triad of the clinical presentations and appear in approximately 70 % of cases [2, 4, 5]. Palatal myoclonus, which is specific and essential for AxD diagnosis, is only observed in one third, especially in hereditary cases [6], not seen in our patient. Nearly 45 % of reported patients had autonomic dysfunction including bowel/bladder dysfunction and orthostatic hypotension [7], which was found in our patient."}

{"project":"2_test","denotations":[{"id":"27814755-18684770-12819170","span":{"begin":273,"end":274},"obj":"18684770"},{"id":"27814755-11138011-12819171","span":{"begin":276,"end":277},"obj":"11138011"},{"id":"27814755-18684770-12819172","span":{"begin":413,"end":414},"obj":"18684770"},{"id":"27814755-20562394-12819173","span":{"begin":450,"end":451},"obj":"20562394"},{"id":"27814755-18684770-12819174","span":{"begin":802,"end":803},"obj":"18684770"},{"id":"27814755-20562394-12819175","span":{"begin":805,"end":806},"obj":"20562394"},{"id":"27814755-20359319-12819176","span":{"begin":808,"end":809},"obj":"20359319"},{"id":"27814755-11867077-12819177","span":{"begin":945,"end":946},"obj":"11867077"},{"id":"27814755-20721574-12819178","span":{"begin":1098,"end":1099},"obj":"20721574"}],"text":"This case with AxD is characterized by typical clinical and MRI findings, especially with family history and adult onset. The heterozygous missense mutation in the GFAP gene, c.1246C \u003e T, p.R416W was identified, which was already shown to be pathogenic in adult onset AxD [2, 3]. It has been reported that adult AxD has various clinical courses. Most cases have a subacute onset and gradually progressive course [2], but some present an acute onset [4]. There is no gender difference. About half of the cases is familial, consistent with autosomal dominant transmission. The mean age of onset is usually in the late thirties. Our patient had pseudobulbar, spastic paresis and ataxia, which are acknowledged as the cardinal triad of the clinical presentations and appear in approximately 70 % of cases [2, 4, 5]. Palatal myoclonus, which is specific and essential for AxD diagnosis, is only observed in one third, especially in hereditary cases [6], not seen in our patient. Nearly 45 % of reported patients had autonomic dysfunction including bowel/bladder dysfunction and orthostatic hypotension [7], which was found in our patient."}