PMC:3654953 / 10236-11439 JSONTXT

{"project":"AxD_symptoms","denotations":[{"id":"T47","span":{"begin":237,"end":260},"obj":"Phenotype"},{"id":"T48","span":{"begin":390,"end":400},"obj":"Phenotype"},{"id":"T49","span":{"begin":401,"end":410},"obj":"Phenotype"},{"id":"T50","span":{"begin":417,"end":435},"obj":"Phenotype"},{"id":"T51","span":{"begin":442,"end":452},"obj":"Phenotype"},{"id":"T52","span":{"begin":465,"end":471},"obj":"Phenotype"},{"id":"T53","span":{"begin":478,"end":492},"obj":"Phenotype"},{"id":"T54","span":{"begin":499,"end":512},"obj":"Phenotype"},{"id":"T55","span":{"begin":519,"end":533},"obj":"Phenotype"},{"id":"T56","span":{"begin":955,"end":974},"obj":"Phenotype"}],"attributes":[{"id":"A56","pred":"hp_id","subj":"T56","obj":"http://purl.obolibrary.org/obo/HP_0008763"},{"id":"A48","pred":"hp_id","subj":"T48","obj":"http://purl.obolibrary.org/obo/HP_0001260"},{"id":"A51","pred":"hp_id","subj":"T51","obj":"http://purl.obolibrary.org/obo/HP_0001257"},{"id":"A50","pred":"hp_id","subj":"T50","obj":"http://purl.obolibrary.org/obo/HP_0001288"},{"id":"A55","pred":"hp_id","subj":"T55","obj":"http://purl.obolibrary.org/obo/HP_0003202"},{"id":"A54","pred":"hp_id","subj":"T54","obj":"http://purl.obolibrary.org/obo/HP_0003690"},{"id":"A49","pred":"hp_id","subj":"T49","obj":"http://purl.obolibrary.org/obo/HP_0002015"},{"id":"A47","pred":"hp_id","subj":"T47","obj":"http://purl.obolibrary.org/obo/HP_0007002"},{"id":"A53","pred":"hp_id","subj":"T53","obj":"http://purl.obolibrary.org/obo/HP_0002406"},{"id":"A52","pred":"hp_id","subj":"T52","obj":"http://purl.obolibrary.org/obo/HP_0001251"}],"text":"Table 1 Clinical and instrumental assessments\n  Pt1 Pt2\nCurrent age 68 60\nAge at onset 55 46\nDisease duration at the time of examinations, years 13 14\nInstrumental assessment *\nCognitive: MMSE score 16/30 30/30\nEMG 0 Mild motor axonal neuropathy (1)\nMEPs Bulbar/UL/LL N.A./0/0 1/1/3\nSEPs UL/LL 1/1 0/1\nBAEPs NA NA\nVEPs 0 0\nAutonomic testing 0 0\nClinical scoring **\nDysarthria/dysphagia 2 2\nGait abnormalities 1 3\nSpasticity 0 3\nAxial Ataxia 1 0\nLimb dysmetria 2 0\nLimb weakness 0 2\nMuscle wasting 0 1\nSphincter function 2 0\n* For neurophysiological assessments, values are graded as 0 (normal), 1 (abnormality not exceeding 25% of upper/lower normal ranges), 2 (between 25 and 50%), and 3 (beyond 50%).\n** For clinical dysfunctions, abnormalities are graded as 0 (normal), 1 (only objective signs), 2 (mild dysfunction, not interfering with activities), 3 (severe dysfunction interfering with walking, feeding, or social interactions).\nMMSE: mini–mental state examination; EMG: Electromyography; MEPs: Motor evoked potentials; SEPs: Sensory evoked potentials; UL/LL: upper/lower limbs; BAEPs: Brainstem Auditory Evoked Potentials; VEPs: visual evoked potentials."}