PMC:3654953 / 177-712 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3654953","sourcedb":"PMC","sourceid":"3654953","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3654953","text":"We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, and severe motor-neuron disease (MND) in her half-brother, the brain Magnetic Resonance Imaging (MRI) features were compatible with adult-onset Alexander’s disease (AOAD), suggesting different expression of the same, genetically determined, condition.","tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T1","span":{"begin":218,"end":235},"obj":"Phenotype"},{"id":"T2","span":{"begin":241,"end":261},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/HP_0100022"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/HP_0100543"},{"subj":"T1","pred":"source","obj":"AxD_symptoms"},{"subj":"T2","pred":"source","obj":"AxD_symptoms"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#93ec94","default":true}]}]}}