PMC:6967083 / 4372-5518 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":"We report an adult patient with levodopa-responsive parkinsonism and known pathogenic GFAP variant. This patient did not have typical symptoms suggestive of Alexander disease. The adult-onset Alexander disease has various clinical features, mainly speech abnormalities, swallowing difficulties, frequent vomiting, lower limb spasticity and ataxia [3]. It can be found incidentally at autopsy or molecularly confirmed cases without a prior history and it is possible that the patient may never develop symptoms related to this genetic diagnosis [4]. It may be reasonable to infer that abnormalities of the brain MRI are mild, and it is difficult for them to develop symptoms, or they may develop for a lengthy time, and become chronic adaptation or compensation. In contrast, the patient showed not only typical parkinsonism, but also good levodopa responsiveness, indicating a clinical diagnosis of PD. Moreover, this was highly supported by FP-CIT PET findings of presynaptic dopaminergic depletion. To the best of our knowledge, a case of Alexander disease, with both typical parkinsonism and striatal dopamine depletion, has not been reported.","tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T14","span":{"begin":52,"end":64},"obj":"Phenotype"},{"id":"T15","span":{"begin":270,"end":293},"obj":"Phenotype"},{"id":"T16","span":{"begin":295,"end":312},"obj":"Phenotype"},{"id":"T17","span":{"begin":314,"end":335},"obj":"Phenotype"},{"id":"T18","span":{"begin":340,"end":346},"obj":"Phenotype"},{"id":"T19","span":{"begin":584,"end":610},"obj":"Phenotype"},{"id":"T20","span":{"begin":811,"end":823},"obj":"Phenotype"},{"id":"T21","span":{"begin":1078,"end":1090},"obj":"Phenotype"}],"attributes":[{"id":"A18","pred":"hp_id","subj":"T18","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A19","pred":"hp_id","subj":"T19","obj":"http://purl.obolibrary.org/obo/HP_0012443"},{"id":"A20","pred":"hp_id","subj":"T20","obj":"http://purl.obolibrary.org/obo/HP_0001300"},{"id":"A16","pred":"hp_id","subj":"T16","obj":"http://purl.obolibrary.org/obo/HP_0002572"},{"id":"A21","pred":"hp_id","subj":"T21","obj":"http://purl.obolibrary.org/obo/HP_0001300"},{"id":"A15","pred":"hp_id","subj":"T15","obj":"http://purl.obolibrary.org/obo/HP_0002015"},{"id":"A17","pred":"hp_id","subj":"T17","obj":"http://purl.obolibrary.org/obo/HP_0002061"},{"id":"A14","pred":"hp_id","subj":"T14","obj":"http://purl.obolibrary.org/obo/HP_0001300"},{"subj":"T14","pred":"source","obj":"AxD_symptoms"},{"subj":"T15","pred":"source","obj":"AxD_symptoms"},{"subj":"T16","pred":"source","obj":"AxD_symptoms"},{"subj":"T17","pred":"source","obj":"AxD_symptoms"},{"subj":"T18","pred":"source","obj":"AxD_symptoms"},{"subj":"T19","pred":"source","obj":"AxD_symptoms"},{"subj":"T20","pred":"source","obj":"AxD_symptoms"},{"subj":"T21","pred":"source","obj":"AxD_symptoms"}]},{"project":"2_test","denotations":[{"id":"31952467-24306001-12806209","span":{"begin":348,"end":349},"obj":"24306001"},{"id":"31952467-12034785-12806210","span":{"begin":545,"end":546},"obj":"12034785"}],"attributes":[{"subj":"31952467-24306001-12806209","pred":"source","obj":"2_test"},{"subj":"31952467-12034785-12806210","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#e193ec","default":true},{"id":"2_test","color":"#93ecc7"}]}]}}