PMC:5097349 / 9964-12554
Annnotations
AxD_symptoms
{"project":"AxD_symptoms","denotations":[{"id":"T28","span":{"begin":386,"end":402},"obj":"Phenotype"},{"id":"T29","span":{"begin":519,"end":535},"obj":"Phenotype"},{"id":"T30","span":{"begin":695,"end":709},"obj":"Phenotype"},{"id":"T31","span":{"begin":758,"end":774},"obj":"Phenotype"},{"id":"T32","span":{"begin":810,"end":822},"obj":"Phenotype"},{"id":"T33","span":{"begin":834,"end":842},"obj":"Phenotype"},{"id":"T34","span":{"begin":844,"end":862},"obj":"Phenotype"},{"id":"T35","span":{"begin":956,"end":964},"obj":"Phenotype"},{"id":"T36","span":{"begin":970,"end":978},"obj":"Phenotype"},{"id":"T37","span":{"begin":988,"end":1025},"obj":"Phenotype"},{"id":"T38","span":{"begin":1046,"end":1064},"obj":"Phenotype"},{"id":"T39","span":{"begin":1066,"end":1074},"obj":"Phenotype"},{"id":"T40","span":{"begin":1094,"end":1102},"obj":"Phenotype"},{"id":"T41","span":{"begin":1200,"end":1206},"obj":"Phenotype"},{"id":"T42","span":{"begin":1261,"end":1274},"obj":"Phenotype"},{"id":"T43","span":{"begin":1287,"end":1301},"obj":"Phenotype"},{"id":"T44","span":{"begin":1310,"end":1321},"obj":"Phenotype"},{"id":"T45","span":{"begin":1386,"end":1404},"obj":"Phenotype"},{"id":"T46","span":{"begin":1427,"end":1438},"obj":"Phenotype"},{"id":"T47","span":{"begin":1440,"end":1448},"obj":"Phenotype"},{"id":"T48","span":{"begin":1450,"end":1472},"obj":"Phenotype"},{"id":"T49","span":{"begin":1489,"end":1505},"obj":"Phenotype"},{"id":"T50","span":{"begin":1526,"end":1535},"obj":"Phenotype"},{"id":"T51","span":{"begin":1542,"end":1549},"obj":"Phenotype"},{"id":"T52","span":{"begin":1654,"end":1661},"obj":"Phenotype"},{"id":"T53","span":{"begin":1793,"end":1799},"obj":"Phenotype"},{"id":"T54","span":{"begin":1845,"end":1872},"obj":"Phenotype"},{"id":"T55","span":{"begin":2011,"end":2025},"obj":"Phenotype"},{"id":"T56","span":{"begin":2115,"end":2134},"obj":"Phenotype"},{"id":"T57","span":{"begin":2139,"end":2158},"obj":"Phenotype"},{"id":"T58","span":{"begin":2189,"end":2207},"obj":"Phenotype"},{"id":"T59","span":{"begin":2269,"end":2286},"obj":"Phenotype"},{"id":"T60","span":{"begin":2349,"end":2372},"obj":"Phenotype"},{"id":"T61","span":{"begin":2400,"end":2417},"obj":"Phenotype"},{"id":"T62","span":{"begin":2423,"end":2449},"obj":"Phenotype"},{"id":"T63","span":{"begin":2456,"end":2480},"obj":"Phenotype"},{"id":"T64","span":{"begin":2481,"end":2495},"obj":"Phenotype"}],"attributes":[{"id":"A53","pred":"hp_id","subj":"T53","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A28","pred":"hp_id","subj":"T28","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A63","pred":"hp_id","subj":"T63","obj":"http://purl.obolibrary.org/obo/HP_0011096"},{"id":"A37","pred":"hp_id","subj":"T37","obj":"http://purl.obolibrary.org/obo/HP_0006956"},{"id":"A46","pred":"hp_id","subj":"T46","obj":"http://purl.obolibrary.org/obo/HP_0002354"},{"id":"A42","pred":"hp_id","subj":"T42","obj":"http://purl.obolibrary.org/obo/HP_0000991"},{"id":"A43","pred":"hp_id","subj":"T43","obj":"http://purl.obolibrary.org/obo/HP_0001271"},{"id":"A51","pred":"hp_id","subj":"T51","obj":"http://purl.obolibrary.org/obo/HP_0001297"},{"id":"A38","pred":"hp_id","subj":"T38","obj":"http://purl.obolibrary.org/obo/HP_0000708"},{"id":"A52","pred":"hp_id","subj":"T52","obj":"http://purl.obolibrary.org/obo/HP_0001297"},{"id":"A48","pred":"hp_id","subj":"T48","obj":"http://purl.obolibrary.org/obo/HP_0000924"},{"id":"A64","pred":"hp_id","subj":"T64","obj":"http://purl.obolibrary.org/obo/HP_0001271"},{"id":"A34","pred":"hp_id","subj":"T34","obj":"http://purl.obolibrary.org/obo/HP_0100704"},{"id":"A50","pred":"hp_id","subj":"T50","obj":"http://purl.obolibrary.org/obo/HP_0002076"},{"id":"A30","pred":"hp_id","subj":"T30","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A36","pred":"hp_id","subj":"T36","obj":"http://purl.obolibrary.org/obo/HP_0000726"},{"id":"A41","pred":"hp_id","subj":"T41","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A56","pred":"hp_id","subj":"T56","obj":"http://purl.obolibrary.org/obo/HP_0002352"},{"id":"A54","pred":"hp_id","subj":"T54","obj":"http://purl.obolibrary.org/obo/HP_0006994"},{"id":"A47","pred":"hp_id","subj":"T47","obj":"http://purl.obolibrary.org/obo/HP_0000726"},{"id":"A49","pred":"hp_id","subj":"T49","obj":"http://purl.obolibrary.org/obo/HP_0002120"},{"id":"A62","pred":"hp_id","subj":"T62","obj":"http://purl.obolibrary.org/obo/HP_0002326"},{"id":"A33","pred":"hp_id","subj":"T33","obj":"http://purl.obolibrary.org/obo/HP_0001250"},{"id":"A40","pred":"hp_id","subj":"T40","obj":"http://purl.obolibrary.org/obo/HP_0001250"},{"id":"A31","pred":"hp_id","subj":"T31","obj":"http://purl.obolibrary.org/obo/HP_0002120"},{"id":"A61","pred":"hp_id","subj":"T61","obj":"http://purl.obolibrary.org/obo/HP_0001251"},{"id":"A57","pred":"hp_id","subj":"T57","obj":"http://purl.obolibrary.org/obo/HP_0002313"},{"id":"A29","pred":"hp_id","subj":"T29","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A45","pred":"hp_id","subj":"T45","obj":"http://purl.obolibrary.org/obo/HP_0001272"},{"id":"A39","pred":"hp_id","subj":"T39","obj":"http://purl.obolibrary.org/obo/HP_0000726"},{"id":"A35","pred":"hp_id","subj":"T35","obj":"http://purl.obolibrary.org/obo/HP_0002076"},{"id":"A55","pred":"hp_id","subj":"T55","obj":"http://purl.obolibrary.org/obo/HP_0002415"},{"id":"A59","pred":"hp_id","subj":"T59","obj":"http://purl.obolibrary.org/obo/HP_0001268"},{"id":"A44","pred":"hp_id","subj":"T44","obj":"http://purl.obolibrary.org/obo/HP_0000991"},{"id":"A58","pred":"hp_id","subj":"T58","obj":"http://purl.obolibrary.org/obo/HP_0007024"},{"id":"A60","pred":"hp_id","subj":"T60","obj":"http://purl.obolibrary.org/obo/HP_0001278"},{"id":"A32","pred":"hp_id","subj":"T32","obj":"http://purl.obolibrary.org/obo/HP_0002273"}],"text":"In the radiologic differential diagnosis of adult AxD, several disorders need to be considered [9]. Diseases like degenerative disorders, particularly progressive supranuclear palsy, multisystem atrophy with cerebellar predominance, and various spinocerebellar ataxias often have brain stem and cerebellum atrophy but without lesions in periventricular white matter [8]. Besiedes, some leukodystrophies which are similar to adult AxD were described below (see Table 1) [5, 10–17].\nTable 1 The characteristics of common leukodystrophies in adult\nDisease Clinical presentation Abnormal regions or abnormalities on brain MRI Gene mutations\nX-ALD SP CST, dorsal columns, CC, PWM ABCD1\nMetachromatic leukodystrophy PP, motor impairment bilateral frontal PWM, CC; cortical atrophy ARSA\nKrabbe’s disease (GALC) SP or tetraparesis, PDPN, CD, seizures, cortical blindness Supratentorial, CWM, PT, splenium of CC and optic radiation, CST; CC atrophy GALC\nVWM (CACH) migraine, PP, dementia, PBP, SP enlargement of the lateral ventricles; WM EIF2B\nHDLS/POLD behavioral changes, dementia, motor impairment, epilepsy internal capsules, CST; WM with non-enhancing; frontal lobes atrophy CSF1R\nADLD AS, BBD, OH, PS, ataxia frontoparietal WM, CP, CST, CC LMNB1\nCerebrotendinous xanthomatosis PP, SP, CA, polyneuropathy, tendon xanthomatas dentate nucleus, CWM, CP, PT, PWN, CC, basal ganglia; brain and cerebellar atrophy CYP27A1\nNHD/PLOSL PP, memory loss, dementia, skeletal abnormalities nonspecific WM; cortical atrophy TREM2 DAP12\nCADASIL migraines, TIA, strokes, PP, CD PWM in the centrum semiovale, external capsules and anterior temporal poles NOTCH3\nCARASIL TIA, strokes diffuse WM changes, lacunar infarcts HTRA1\nX-ALD X-linked adrenoleukodystrophy, VWM Vanishing white matter disease, CACH childhood ataxia with central hypomylination, HDLS hereditary diffuse leukoencephalopathy with neuroaxonal spheroids, POLD Autosomal dominant pigmentary type of orthochromatic leucodystrophy, ADLD Adult-onset autosomal dominant leukodystrophy, NHD Nasu-Hakola disease, PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, SP spastic paraparesis, PP psychiatric problems, PBP pseudobulbar palsy, WM white matter, CWM cerebellar WM, PT pyramidal tracts, CD cognitive decline, AS autonomic symptoms, BBD bowel and bladder dysfunction, OH orthostatic hypotension, PS pyramidal symptoms, CA cerebellar ataxia, TIA transient ischemic attacks, PDPN peripheral demyelinating polyneuropathy, CST corticospinal tracts, CC corpus callosum, PWM periventricular WM, CP cerebellar peduncles"}
2_test
{"project":"2_test","denotations":[{"id":"27814755-17509491-12819184","span":{"begin":96,"end":97},"obj":"17509491"},{"id":"27814755-18388212-12819185","span":{"begin":367,"end":368},"obj":"18388212"},{"id":"27814755-20359319-12819186","span":{"begin":470,"end":471},"obj":"20359319"},{"id":"27814755-23622383-12819187","span":{"begin":473,"end":475},"obj":"23622383"},{"id":"27814755-25098479-12819187","span":{"begin":473,"end":475},"obj":"25098479"},{"id":"27814755-25987178-12819187","span":{"begin":473,"end":475},"obj":"25987178"},{"id":"27814755-24306001-12819187","span":{"begin":473,"end":475},"obj":"24306001"},{"id":"27814755-24390523-12819187","span":{"begin":473,"end":475},"obj":"24390523"},{"id":"27814755-25935893-12819187","span":{"begin":473,"end":475},"obj":"25935893"},{"id":"27814755-22503135-12819187","span":{"begin":473,"end":475},"obj":"22503135"},{"id":"27814755-12557294-12819187","span":{"begin":473,"end":475},"obj":"12557294"}],"text":"In the radiologic differential diagnosis of adult AxD, several disorders need to be considered [9]. Diseases like degenerative disorders, particularly progressive supranuclear palsy, multisystem atrophy with cerebellar predominance, and various spinocerebellar ataxias often have brain stem and cerebellum atrophy but without lesions in periventricular white matter [8]. Besiedes, some leukodystrophies which are similar to adult AxD were described below (see Table 1) [5, 10–17].\nTable 1 The characteristics of common leukodystrophies in adult\nDisease Clinical presentation Abnormal regions or abnormalities on brain MRI Gene mutations\nX-ALD SP CST, dorsal columns, CC, PWM ABCD1\nMetachromatic leukodystrophy PP, motor impairment bilateral frontal PWM, CC; cortical atrophy ARSA\nKrabbe’s disease (GALC) SP or tetraparesis, PDPN, CD, seizures, cortical blindness Supratentorial, CWM, PT, splenium of CC and optic radiation, CST; CC atrophy GALC\nVWM (CACH) migraine, PP, dementia, PBP, SP enlargement of the lateral ventricles; WM EIF2B\nHDLS/POLD behavioral changes, dementia, motor impairment, epilepsy internal capsules, CST; WM with non-enhancing; frontal lobes atrophy CSF1R\nADLD AS, BBD, OH, PS, ataxia frontoparietal WM, CP, CST, CC LMNB1\nCerebrotendinous xanthomatosis PP, SP, CA, polyneuropathy, tendon xanthomatas dentate nucleus, CWM, CP, PT, PWN, CC, basal ganglia; brain and cerebellar atrophy CYP27A1\nNHD/PLOSL PP, memory loss, dementia, skeletal abnormalities nonspecific WM; cortical atrophy TREM2 DAP12\nCADASIL migraines, TIA, strokes, PP, CD PWM in the centrum semiovale, external capsules and anterior temporal poles NOTCH3\nCARASIL TIA, strokes diffuse WM changes, lacunar infarcts HTRA1\nX-ALD X-linked adrenoleukodystrophy, VWM Vanishing white matter disease, CACH childhood ataxia with central hypomylination, HDLS hereditary diffuse leukoencephalopathy with neuroaxonal spheroids, POLD Autosomal dominant pigmentary type of orthochromatic leucodystrophy, ADLD Adult-onset autosomal dominant leukodystrophy, NHD Nasu-Hakola disease, PLOSL polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, SP spastic paraparesis, PP psychiatric problems, PBP pseudobulbar palsy, WM white matter, CWM cerebellar WM, PT pyramidal tracts, CD cognitive decline, AS autonomic symptoms, BBD bowel and bladder dysfunction, OH orthostatic hypotension, PS pyramidal symptoms, CA cerebellar ataxia, TIA transient ischemic attacks, PDPN peripheral demyelinating polyneuropathy, CST corticospinal tracts, CC corpus callosum, PWM periventricular WM, CP cerebellar peduncles"}