PMC:3654953 / 4257-5460 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":"Patient 1, Pt1 (subject II-2 in Figure 1A) is now 68 years old. Her insidious disease onset started at 55 years, and was first characterized by psychiatric symptoms, initially as a bipolar disorder with depression alternated by hypomanic behavior (compulsive gambling), and eventually as a cognitive deterioration with apathy, neglect of personal care, and memory loss. Shortly thereafter, she manifested an ataxic gait with frequent falls, followed by progressive dysarthria, dysphagia to liquids, drooling, and fluctuating palatal myoclonus. An Electroencephalography at 61 showed unspecific irritative abnormalities; visual evoked potentials were altered. The neurological examination disclosed a moderate ataxic gait requiring a can, dysarthria, palatal myoclonus, and hypotonia (right \u003e left), increased tendon reflexes, a positive Babinski sign at the right foot, mild dyskinesias, mild distal dystonia. Eye movements were normal. A Mini Mental State Examination scored 16/30. The syndrome slowly progressed, with worsening of cognitive deterioration, dysarthria and dysphagia, and onset of urinary incontinence. Several Electromyography (EMG) examinations have consistently been normal over time.","tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T8","span":{"begin":181,"end":197},"obj":"Phenotype"},{"id":"T9","span":{"begin":203,"end":213},"obj":"Phenotype"},{"id":"T10","span":{"begin":319,"end":325},"obj":"Phenotype"},{"id":"T11","span":{"begin":357,"end":368},"obj":"Phenotype"},{"id":"T12","span":{"begin":408,"end":419},"obj":"Phenotype"},{"id":"T13","span":{"begin":425,"end":439},"obj":"Phenotype"},{"id":"T14","span":{"begin":465,"end":475},"obj":"Phenotype"},{"id":"T15","span":{"begin":477,"end":486},"obj":"Phenotype"},{"id":"T16","span":{"begin":499,"end":507},"obj":"Phenotype"},{"id":"T17","span":{"begin":525,"end":542},"obj":"Phenotype"},{"id":"T18","span":{"begin":605,"end":644},"obj":"Phenotype"},{"id":"T19","span":{"begin":709,"end":720},"obj":"Phenotype"},{"id":"T20","span":{"begin":738,"end":748},"obj":"Phenotype"},{"id":"T21","span":{"begin":750,"end":767},"obj":"Phenotype"},{"id":"T22","span":{"begin":773,"end":782},"obj":"Phenotype"},{"id":"T23","span":{"begin":837,"end":850},"obj":"Phenotype"},{"id":"T24","span":{"begin":875,"end":886},"obj":"Phenotype"},{"id":"T25","span":{"begin":900,"end":908},"obj":"Phenotype"},{"id":"T26","span":{"begin":1058,"end":1068},"obj":"Phenotype"},{"id":"T27","span":{"begin":1073,"end":1082},"obj":"Phenotype"},{"id":"T28","span":{"begin":1097,"end":1117},"obj":"Phenotype"}],"attributes":[{"id":"A27","pred":"hp_id","subj":"T27","obj":"http://purl.obolibrary.org/obo/HP_0002015"},{"id":"A10","pred":"hp_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/HP_0000741"},{"id":"A19","pred":"hp_id","subj":"T19","obj":"http://purl.obolibrary.org/obo/HP_0002066"},{"id":"A21","pred":"hp_id","subj":"T21","obj":"http://purl.obolibrary.org/obo/HP_0010530"},{"id":"A25","pred":"hp_id","subj":"T25","obj":"http://purl.obolibrary.org/obo/HP_0001332"},{"id":"A13","pred":"hp_id","subj":"T13","obj":"http://purl.obolibrary.org/obo/HP_0002359"},{"id":"A14","pred":"hp_id","subj":"T14","obj":"http://purl.obolibrary.org/obo/HP_0001260"},{"id":"A9","pred":"hp_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/HP_0000716"},{"id":"A23","pred":"hp_id","subj":"T23","obj":"http://purl.obolibrary.org/obo/HP_0003487"},{"id":"A24","pred":"hp_id","subj":"T24","obj":"http://purl.obolibrary.org/obo/HP_0100660"},{"id":"A11","pred":"hp_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/HP_0002354"},{"id":"A12","pred":"hp_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/HP_0002066"},{"id":"A17","pred":"hp_id","subj":"T17","obj":"http://purl.obolibrary.org/obo/HP_0010530"},{"id":"A20","pred":"hp_id","subj":"T20","obj":"http://purl.obolibrary.org/obo/HP_0001260"},{"id":"A8","pred":"hp_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/HP_0007302"},{"id":"A15","pred":"hp_id","subj":"T15","obj":"http://purl.obolibrary.org/obo/HP_0002015"},{"id":"A22","pred":"hp_id","subj":"T22","obj":"http://purl.obolibrary.org/obo/HP_0001290"},{"id":"A26","pred":"hp_id","subj":"T26","obj":"http://purl.obolibrary.org/obo/HP_0001260"},{"id":"A28","pred":"hp_id","subj":"T28","obj":"http://purl.obolibrary.org/obo/HP_0000020"},{"id":"A16","pred":"hp_id","subj":"T16","obj":"http://purl.obolibrary.org/obo/HP_0002307"},{"id":"A18","pred":"hp_id","subj":"T18","obj":"http://purl.obolibrary.org/obo/HP_0000649"},{"subj":"T8","pred":"source","obj":"AxD_symptoms"},{"subj":"T9","pred":"source","obj":"AxD_symptoms"},{"subj":"T10","pred":"source","obj":"AxD_symptoms"},{"subj":"T11","pred":"source","obj":"AxD_symptoms"},{"subj":"T12","pred":"source","obj":"AxD_symptoms"},{"subj":"T13","pred":"source","obj":"AxD_symptoms"},{"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"},{"subj":"T22","pred":"source","obj":"AxD_symptoms"},{"subj":"T23","pred":"source","obj":"AxD_symptoms"},{"subj":"T24","pred":"source","obj":"AxD_symptoms"},{"subj":"T25","pred":"source","obj":"AxD_symptoms"},{"subj":"T26","pred":"source","obj":"AxD_symptoms"},{"subj":"T27","pred":"source","obj":"AxD_symptoms"},{"subj":"T28","pred":"source","obj":"AxD_symptoms"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#ecc293","default":true}]}]}}