PMC:3506840 / 1295-2429
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3506840","sourcedb":"PMC","sourceid":"3506840","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3506840","text":"Introduction\nTypical Alexander disease (AxD) (OMIM #203450) is a lethal infantile leukoencephalopathy with frontal predominance characterized by Rosenthal fiber deposition in astrocytes (reviewed in [1]). The discovery that mutations in the gene coding glial fibrillary acidic protein (GFAP) are responsible for AxD has led to the identification of both juvenile (age at onset: 2–12 years) and adult (age at onset: over 12 years) forms of the disease. Each subtype is characterized by specific MRI findings: in the juvenile form, tumor-like nodular and/or swollen lesions in the brainstem [2, 3]; in the adult form, a distinctive tadpole-like brainstem atrophy, consisting of severe atrophy of the medulla oblongata and cervical spinal cord, with an intact pontine base [4, 5]. The reason for the age-related variability of the lesions in AxD remains unclear.\nWe present here a novel case of genetically confirmed AxD. The patient’s episodic vomiting improved spontaneously and she became neurologically asymptomatic, although longitudinal observations for more than 12 years revealed insidiously progressive cervicomedullary atrophy.","divisions":[{"label":"title","span":{"begin":0,"end":12}},{"label":"p","span":{"begin":13,"end":859}}],"tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T7","span":{"begin":82,"end":101},"obj":"Phenotype"},{"id":"T8","span":{"begin":145,"end":160},"obj":"Phenotype"},{"id":"T9","span":{"begin":530,"end":535},"obj":"Phenotype"},{"id":"T10","span":{"begin":643,"end":660},"obj":"Phenotype"},{"id":"T11","span":{"begin":933,"end":950},"obj":"Phenotype"}],"attributes":[{"id":"A7","pred":"hp_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/HP_0002352"},{"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_0002664"},{"id":"A10","pred":"hp_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/HP_0007366"},{"id":"A11","pred":"hp_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/HP_0002572"},{"subj":"T7","pred":"source","obj":"AxD_symptoms"},{"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"}]},{"project":"2_test","denotations":[{"id":"22198646-15732098-75888804","span":{"begin":590,"end":591},"obj":"15732098"},{"id":"22198646-16505300-75888805","span":{"begin":593,"end":594},"obj":"16505300"},{"id":"22198646-12447932-75888806","span":{"begin":771,"end":772},"obj":"12447932"}],"attributes":[{"subj":"22198646-15732098-75888804","pred":"source","obj":"2_test"},{"subj":"22198646-16505300-75888805","pred":"source","obj":"2_test"},{"subj":"22198646-12447932-75888806","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#ec93eb","default":true},{"id":"2_test","color":"#93ecd3"}]}]}}