PMC:5590178 / 2887-3958 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T10","span":{"begin":179,"end":193},"obj":"Phenotype"},{"id":"T11","span":{"begin":201,"end":214},"obj":"Phenotype"},{"id":"T12","span":{"begin":216,"end":235},"obj":"Phenotype"},{"id":"T13","span":{"begin":237,"end":260},"obj":"Phenotype"},{"id":"T14","span":{"begin":272,"end":280},"obj":"Phenotype"},{"id":"T15","span":{"begin":317,"end":335},"obj":"Phenotype"},{"id":"T16","span":{"begin":349,"end":361},"obj":"Phenotype"},{"id":"T17","span":{"begin":366,"end":372},"obj":"Phenotype"},{"id":"T18","span":{"begin":561,"end":579},"obj":"Phenotype"},{"id":"T19","span":{"begin":581,"end":593},"obj":"Phenotype"},{"id":"T20","span":{"begin":606,"end":624},"obj":"Phenotype"},{"id":"T21","span":{"begin":840,"end":852},"obj":"Phenotype"},{"id":"T22","span":{"begin":854,"end":873},"obj":"Phenotype"},{"id":"T23","span":{"begin":1012,"end":1039},"obj":"Phenotype"}],"attributes":[{"id":"A10","pred":"hp_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/HP_0001355"},{"id":"A11","pred":"hp_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/HP_0000238"},{"id":"A16","pred":"hp_id","subj":"T16","obj":"http://purl.obolibrary.org/obo/HP_0002483"},{"id":"A19","pred":"hp_id","subj":"T19","obj":"http://purl.obolibrary.org/obo/HP_0002273"},{"id":"A23","pred":"hp_id","subj":"T23","obj":"http://purl.obolibrary.org/obo/HP_0000496"},{"id":"A17","pred":"hp_id","subj":"T17","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A12","pred":"hp_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/HP_0001263"},{"id":"A21","pred":"hp_id","subj":"T21","obj":"http://purl.obolibrary.org/obo/HP_0000256"},{"id":"A15","pred":"hp_id","subj":"T15","obj":"http://purl.obolibrary.org/obo/HP_0001258"},{"id":"A18","pred":"hp_id","subj":"T18","obj":"http://purl.obolibrary.org/obo/HP_0002073"},{"id":"A14","pred":"hp_id","subj":"T14","obj":"http://purl.obolibrary.org/obo/HP_0001250"},{"id":"A13","pred":"hp_id","subj":"T13","obj":"http://purl.obolibrary.org/obo/HP_0025356"},{"id":"A20","pred":"hp_id","subj":"T20","obj":"http://purl.obolibrary.org/obo/HP_0002200"},{"id":"A22","pred":"hp_id","subj":"T22","obj":"http://purl.obolibrary.org/obo/HP_0001263"}],"text":"AxD has been classified into three clinical subtypes depending on age at onset (AAO). Infantile AxD (birth to 2 years), the most frequent subtype, is characterized by progressive megalencephaly and/or hydrocephalus, developmental delay, psychomotor retardation, epileptic seizures. Juvenile AxD (2–14 years) features spastic paraplegia, progressive bulbar signs and ataxia with spared cognitive function. Adult AxD (late adolescence and beyond), the least frequent subtype and often misdiagnosed with multiple sclerosis, shows variable manifestations including progressive ataxia, tetraparesis, bulbar and pseudobulbar signs [3, 10]. A revised classification system was proposed based on statistical analysis of clinical, radiologic, and genetic features of 215 cases of AxD. In the revised system, patients with type I AxD show early AAO, macrocephaly, developmental delay and typical brain magnetic resonance imaging (MRI) features. In contrast, patients with type II AxD exhibit various AAO, bulbar symptoms, ocular movement abnormality and atypical MRI findings [11]."}

{"project":"2_test","denotations":[{"id":"28882119-14572141-12765620","span":{"begin":626,"end":627},"obj":"14572141"},{"id":"28882119-14770299-12765621","span":{"begin":629,"end":631},"obj":"14770299"},{"id":"28882119-21917775-12765622","span":{"begin":1067,"end":1069},"obj":"21917775"}],"text":"AxD has been classified into three clinical subtypes depending on age at onset (AAO). Infantile AxD (birth to 2 years), the most frequent subtype, is characterized by progressive megalencephaly and/or hydrocephalus, developmental delay, psychomotor retardation, epileptic seizures. Juvenile AxD (2–14 years) features spastic paraplegia, progressive bulbar signs and ataxia with spared cognitive function. Adult AxD (late adolescence and beyond), the least frequent subtype and often misdiagnosed with multiple sclerosis, shows variable manifestations including progressive ataxia, tetraparesis, bulbar and pseudobulbar signs [3, 10]. A revised classification system was proposed based on statistical analysis of clinical, radiologic, and genetic features of 215 cases of AxD. In the revised system, patients with type I AxD show early AAO, macrocephaly, developmental delay and typical brain magnetic resonance imaging (MRI) features. In contrast, patients with type II AxD exhibit various AAO, bulbar symptoms, ocular movement abnormality and atypical MRI findings [11]."}