PMC:6967083 / 416-1028 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6967083","sourcedb":"PMC","sourceid":"6967083","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6967083","text":"Case presentation\nHerein, we report an adult a 58-year-old woman presented with typical parkinsonism with good levodopa-responsiveness. The patient’s dopamine transporter scanning showed significant striatal depletion, while her brain magnetic resonance imaging revealed bilateral tadpole shape of medulla oblongata and bilateral high signal intensity at both cerebellar dentate nuclei in T2-weighted images, suggesting the possibility of a genetic disorder beyond Parkinson’s disease. The patient’s genetic test resulted in known pathogenic glial fibrillary acidic protein variant, indicating Alexander disease.","divisions":[{"label":"title","span":{"begin":0,"end":17}}],"tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T3","span":{"begin":88,"end":100},"obj":"Phenotype"}],"attributes":[{"id":"A3","pred":"hp_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/HP_0001300"},{"subj":"T3","pred":"source","obj":"AxD_symptoms"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#a193ec","default":true}]}]}}