PMC:3654953 / 1629-2650
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3654953","sourcedb":"PMC","sourceid":"3654953","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3654953","text":"Alexander’s disease (AD, OMIM #203450) is a rare neurological disorder characterized by a peculiar form of leukodystrophy, with infantile, juvenile and adult forms manifesting with different clinical and pathological signs [1]. AD is a sporadic or autosomal dominant condition associated in most of the cases with heterozygous mutations in the gene encoding the glial fibrillary acidic protein, GFAP, an intermediate filament component of the cytoskeleton of several cell types [2]. GFAP mutations frequently occur de novo, particularly in infantile cases, while in Adult-onset AD (AOAD) both de novo mutations and autosomal dominant transmission have been described [3]. GFAP-containing eosinophil aggregates, known as Rosenthal fibers, distributed in the white matter of the CNS, constitute the morphological hallmark of the disease [2]. Whilst the infantile form shows extensive white matter lesions and usually fatal outcome, AOAD is characterized by predominant brainstem involvement and survival into adulthood [4].","tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T4","span":{"begin":107,"end":121},"obj":"Phenotype"},{"id":"T5","span":{"begin":720,"end":736},"obj":"Phenotype"}],"attributes":[{"id":"A4","pred":"hp_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A5","pred":"hp_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/HP_0100320"},{"subj":"T4","pred":"source","obj":"AxD_symptoms"},{"subj":"T5","pred":"source","obj":"AxD_symptoms"}]},{"project":"2_test","denotations":[{"id":"23634874-14572141-81641068","span":{"begin":224,"end":225},"obj":"14572141"},{"id":"23634874-17498694-81641069","span":{"begin":479,"end":480},"obj":"17498694"},{"id":"23634874-16365765-81641070","span":{"begin":668,"end":669},"obj":"16365765"},{"id":"23634874-17498694-81641071","span":{"begin":836,"end":837},"obj":"17498694"},{"id":"23634874-18684770-81641072","span":{"begin":1018,"end":1019},"obj":"18684770"},{"id":"T21721","span":{"begin":224,"end":225},"obj":"14572141"},{"id":"T94953","span":{"begin":479,"end":480},"obj":"17498694"},{"id":"T10644","span":{"begin":668,"end":669},"obj":"16365765"},{"id":"T41820","span":{"begin":836,"end":837},"obj":"17498694"},{"id":"T41984","span":{"begin":1018,"end":1019},"obj":"18684770"}],"attributes":[{"subj":"23634874-14572141-81641068","pred":"source","obj":"2_test"},{"subj":"23634874-17498694-81641069","pred":"source","obj":"2_test"},{"subj":"23634874-16365765-81641070","pred":"source","obj":"2_test"},{"subj":"23634874-17498694-81641071","pred":"source","obj":"2_test"},{"subj":"23634874-18684770-81641072","pred":"source","obj":"2_test"},{"subj":"T21721","pred":"source","obj":"2_test"},{"subj":"T94953","pred":"source","obj":"2_test"},{"subj":"T10644","pred":"source","obj":"2_test"},{"subj":"T41820","pred":"source","obj":"2_test"},{"subj":"T41984","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#eccb93","default":true},{"id":"2_test","color":"#b193ec"}]}]}}