PMC:3506840 / 1295-2429 JSONTXT

{"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"}],"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."}

{"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"}],"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."}