PMC:6967083 / 162-1155 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":"Background\nAlexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders.\n\nCase 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.\n\nConclusion\nThis unique case highlights genetically diagnosed Alexander disease may present with clinical Parkinson’s disease.","divisions":[{"label":"sec","span":{"begin":0,"end":252}},{"label":"title","span":{"begin":0,"end":10}},{"label":"p","span":{"begin":11,"end":252}},{"label":"sec","span":{"begin":254,"end":866}},{"label":"title","span":{"begin":254,"end":271}},{"label":"p","span":{"begin":272,"end":866}},{"label":"title","span":{"begin":868,"end":878}}],"tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T1","span":{"begin":77,"end":110},"obj":"Phenotype"},{"id":"T2","span":{"begin":115,"end":127},"obj":"Phenotype"},{"id":"T3","span":{"begin":342,"end":354},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/HP_0002478"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/HP_0001283"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/HP_0001300"},{"subj":"T1","pred":"source","obj":"AxD_symptoms"},{"subj":"T2","pred":"source","obj":"AxD_symptoms"},{"subj":"T3","pred":"source","obj":"AxD_symptoms"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#ec93ca","default":true}]}]}}