PMC:3654953 / 9178-10235 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3654953","sourcedb":"PMC","sourceid":"3654953","source_url":"https://www.ncbi.nlm.nih.gov/pmc/3654953","text":"To quantitatively express the different clinical features of the two siblings, we used the Kurtzke scale [8] (Additional file 1), that scores several functional systems (motor, cerebellar, brainstem, urinary, visual, and cognitive) usually involved in white matter disease, including leukodystrophies. The scores were obtained 13 years after disease onset for Pt1 and 14 years after onset for Pt2. The global functional impairment, as assessed by the final EDSS score, [9] was 3/10 for Pt1 (able to walk, moderate ataxia and cognitive impairment, not requiring institutionalization) and 8.5/10 for Pt2 (confined to bed but with some residual upper limb function). For Pt2, the source of the severe disability was predominantly due to pyramidal dysfunction: we thus assessed both patients by also using the ALS-Severity scale, [10] which scored 33/40 for pt1 (speech 7, deglutition 6, upper limbs 10, lower limbs 10), and 17/40 for pt2 (speech 3, deglutition 8, upper limbs 4, lower limbs 2). The results of instrumental examinations are reported in Table 1.","tracks":[{"project":"AxD_symptoms","denotations":[{"id":"T44","span":{"begin":284,"end":300},"obj":"Phenotype"},{"id":"T45","span":{"begin":514,"end":520},"obj":"Phenotype"},{"id":"T46","span":{"begin":525,"end":545},"obj":"Phenotype"}],"attributes":[{"id":"A44","pred":"hp_id","subj":"T44","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A45","pred":"hp_id","subj":"T45","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A46","pred":"hp_id","subj":"T46","obj":"http://purl.obolibrary.org/obo/HP_0100543"},{"subj":"T44","pred":"source","obj":"AxD_symptoms"},{"subj":"T45","pred":"source","obj":"AxD_symptoms"},{"subj":"T46","pred":"source","obj":"AxD_symptoms"}]},{"project":"2_test","denotations":[{"id":"23634874-5504332-81641076","span":{"begin":106,"end":107},"obj":"5504332"},{"id":"23634874-6685237-81641077","span":{"begin":470,"end":471},"obj":"6685237"},{"id":"T11221","span":{"begin":106,"end":107},"obj":"5504332"},{"id":"T74960","span":{"begin":470,"end":471},"obj":"6685237"}],"attributes":[{"subj":"23634874-5504332-81641076","pred":"source","obj":"2_test"},{"subj":"23634874-6685237-81641077","pred":"source","obj":"2_test"},{"subj":"T11221","pred":"source","obj":"2_test"},{"subj":"T74960","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"AxD_symptoms","color":"#ec9399","default":true},{"id":"2_test","color":"#93b3ec"}]}]}}