PMC:5590178 / 1750-2886 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T3","span":{"begin":220,"end":234},"obj":"Phenotype"},{"id":"T4","span":{"begin":236,"end":249},"obj":"Phenotype"},{"id":"T5","span":{"begin":254,"end":277},"obj":"Phenotype"},{"id":"T6","span":{"begin":414,"end":430},"obj":"Phenotype"},{"id":"T7","span":{"begin":484,"end":494},"obj":"Phenotype"},{"id":"T8","span":{"begin":508,"end":524},"obj":"Phenotype"},{"id":"T9","span":{"begin":681,"end":686},"obj":"Phenotype"}],"attributes":[{"id":"A3","pred":"hp_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/HP_0001355"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/HP_0000238"},{"id":"A5","pred":"hp_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/HP_0025356"},{"id":"A6","pred":"hp_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/HP_0100320"},{"id":"A7","pred":"hp_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/HP_0002888"},{"id":"A8","pred":"hp_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/HP_0100320"},{"id":"A9","pred":"hp_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/HP_0031273"}],"text":"Alexander disease (AxD) is a neurodegenerative disorder that primarily affects the white matter of the central nervous system (CNS) [1–5]. It was first reported in 1949 by W. Stewart Alexander in a 15-month-old boy with megalencephaly, hydrocephalus and psychomotor retardation. The brain pathology of the boy showed “progressive fibrinoid degeneration of fibrillary astrocytes,” [6] which was later identified as Rosenthal fibers that were initially described by Werner Rosenthal in ependymoma in 1898 [7]. Rosenthal fibers are homogeneous eosinophilic inclusions stained by hematoxylin and eosin, and consist mainly of glial fibrillary acidic protein (GFAP), αB-crystallin, heat shock protein (HSP) 27 and cyclin D2 [2, 3, 5]. Messing and colleagues reported that AxD was elicited by mutations in the gene encoding GFAP, a type III intermediate filament predominantly found in astrocytes. They suggested that the mutations act in a gain-of-function fashion based on their finding that the phenotypes of Gfap null mice did not parallel those of AxD [8]. Since then, many different GFAP mutations have been reported in AxD patients [9]."}

{"project":"2_test","denotations":[{"id":"28882119-27193225-12765615","span":{"begin":133,"end":134},"obj":"27193225"},{"id":"28882119-14572141-12765615","span":{"begin":133,"end":134},"obj":"14572141"},{"id":"28882119-17498694-12765615","span":{"begin":133,"end":134},"obj":"17498694"},{"id":"28882119-19386454-12765615","span":{"begin":133,"end":134},"obj":"19386454"},{"id":"28882119-27193225-12765616","span":{"begin":719,"end":720},"obj":"27193225"},{"id":"28882119-14572141-12765617","span":{"begin":722,"end":723},"obj":"14572141"},{"id":"28882119-19386454-12765618","span":{"begin":725,"end":726},"obj":"19386454"},{"id":"28882119-11138011-12765619","span":{"begin":1051,"end":1052},"obj":"11138011"}],"text":"Alexander disease (AxD) is a neurodegenerative disorder that primarily affects the white matter of the central nervous system (CNS) [1–5]. It was first reported in 1949 by W. Stewart Alexander in a 15-month-old boy with megalencephaly, hydrocephalus and psychomotor retardation. The brain pathology of the boy showed “progressive fibrinoid degeneration of fibrillary astrocytes,” [6] which was later identified as Rosenthal fibers that were initially described by Werner Rosenthal in ependymoma in 1898 [7]. Rosenthal fibers are homogeneous eosinophilic inclusions stained by hematoxylin and eosin, and consist mainly of glial fibrillary acidic protein (GFAP), αB-crystallin, heat shock protein (HSP) 27 and cyclin D2 [2, 3, 5]. Messing and colleagues reported that AxD was elicited by mutations in the gene encoding GFAP, a type III intermediate filament predominantly found in astrocytes. They suggested that the mutations act in a gain-of-function fashion based on their finding that the phenotypes of Gfap null mice did not parallel those of AxD [8]. Since then, many different GFAP mutations have been reported in AxD patients [9]."}