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T1 Age 3 14 18-year-old T2 Sex 15 19 lady T3 Clinical_event 20 29 presented E1 Clinical_event:T3 T4 History 35 109 history of progressive swaying while walking, worse in night since 5 years T5 Sign_symptom 151 164 tremulousness E2 Sign_symptom:T5 A1 POLARITY E2 NEG T6 Sign_symptom 58 65 swaying E3 Sign_symptom:T6 T7 Clinical_event 72 79 walking E4 Clinical_event:T7 T8 Biological_structure 168 179 upper limbs R1 MODIFY Arg1:T8 Arg2:E2 T9 Duration 102 109 5 years E5 Duration:T9 T10 Time 90 95 night E6 Time:T10 T11 Lab_value 81 86 worse R3 MODIFY Arg1:E6 Arg2:T11 R4 MODIFY Arg1:E5 Arg2:E6 T12 Diagnostic_procedure 111 117 Speech E7 Diagnostic_procedure:T12 T13 History 197 231 no history of weakness or numbness T14 Sign_symptom 211 219 weakness E8 Sign_symptom:T14 A2 POLARITY E8 NEG T15 Sign_symptom 223 231 numbness E9 Sign_symptom:T15 A3 POLARITY E9 NEG T16 Family_history 271 418 her elder sister had similar difficulty in walking of 7-year duration and died because of poorly controlled diabetes mellitus at an age of 20 years T17 Duration 325 331 7-year E10 Duration:T17 T18 Subject 275 287 elder sister T19 Outcome 345 349 died E11 Outcome:T19 T20 Disease_disorder 379 396 diabetes mellitus E12 Disease_disorder:T20 T21 Age 410 418 20 years R6 MODIFY Arg1:T21 Arg2:E11 R7 CAUSE Arg1:E12 Arg2:E11 R8 MODIFY Arg1:T18 Arg2:E11 T22 Family_history 420 461 No other members of the kin were affected T23 Family_history 476 518 no history of consanguinity in the parents T24 Diagnostic_procedure 524 542 cognitive function E13 Diagnostic_procedure:T24 T27 Diagnostic_procedure 562 586 Mini Mental Status Score E14 Diagnostic_procedure:T27 T29 Diagnostic_procedure 598 611 Visual acuity E15 Diagnostic_procedure:T29 T30 Diagnostic_procedure 616 634 fundus examination E16 Diagnostic_procedure:T30 T32 Diagnostic_procedure 652 673 extraocular movements E17 Diagnostic_procedure:T32 T33 Diagnostic_procedure 684 692 saccades E18 Diagnostic_procedure:T33 T34 Diagnostic_procedure 694 702 pursuits E19 Diagnostic_procedure:T34 R14 SUB_PROCEDURE Arg1:E18 Arg2:E17 R15 SUB_PROCEDURE Arg1:E19 Arg2:E17 T35 Disease_disorder 723 742 saccadic intrusions E20 Disease_disorder:T35 A4 POLARITY E20 NEG T36 Disease_disorder 746 755 nystagmus E21 Disease_disorder:T36 A5 POLARITY E21 NEG T38 Diagnostic_procedure 774 778 tone E22 Diagnostic_procedure:T38 T39 Diagnostic_procedure 783 788 power E23 Diagnostic_procedure:T39 T41 Biological_structure 804 818 all four limbs R19 MODIFY Arg1:T41 Arg2:E23 R20 MODIFY Arg1:T41 Arg2:E22 T43 Sign_symptom 896 931 bilateral extensor plantar response E25 Sign_symptom:T43 T44 Diagnostic_procedure 933 942 Vibration E26 Diagnostic_procedure:T44 T45 Diagnostic_procedure 947 967 joint position sense E27 Diagnostic_procedure:T45 T47 Diagnostic_procedure 984 993 Romberg's E28 Diagnostic_procedure:T47 T49 Sign_symptom 1016 1022 swayed E29 Sign_symptom:T49 T50 Detailed_description 1023 1037 to either side R24 MODIFY Arg1:T50 Arg2:E29 T51 Activity 1044 1066 performing tandem walk E30 Activity:T51 T54 Diagnostic_procedure 1127 1136 Haemogram E32 Diagnostic_procedure:T54 T55 Diagnostic_procedure 1138 1143 renal E33 Diagnostic_procedure:T55 T56 Diagnostic_procedure 1145 1150 liver E34 Diagnostic_procedure:T56 T57 Diagnostic_procedure 1155 1177 thyroid function tests E35 Diagnostic_procedure:T57 T59 Diagnostic_procedure 1191 1208 Serum vitamin B12 E36 Diagnostic_procedure:T59 T60 Diagnostic_procedure 1213 1223 folic acid E37 Diagnostic_procedure:T60 T62 Diagnostic_procedure 1258 1280 Nerve conduction study E38 Diagnostic_procedure:T62 T63 Diagnostic_procedure 1453 1456 MRI E39 Diagnostic_procedure:T63 T64 Sign_symptom 1471 1478 atrophy E40 Sign_symptom:T64 T65 Severity 1464 1470 marked R32 MODIFY Arg1:T65 Arg2:E40 T66 Biological_structure 1486 1499 cervical cord T67 Biological_structure 1515 1525 cerebellum R34 MODIFY Arg1:T66 Arg2:E40 T69 Diagnostic_procedure 1559 1574 genetic testing E41 Diagnostic_procedure:T69 T70 Diagnostic_procedure 1581 1584 PCR E42 Diagnostic_procedure:T70 R35 SUB_PROCEDURE Arg1:E42 Arg2:E41 T71 Sign_symptom 1595 1618 expansion of GAA repeat E43 Sign_symptom:T71 T73 Diagnostic_procedure 1295 1325 sensory nerve action potential E44 Diagnostic_procedure:T73 T74 Diagnostic_procedure 1338 1352 distal latency E45 Diagnostic_procedure:T74 T75 Diagnostic_procedure 1354 1373 conduction velocity E46 Diagnostic_procedure:T75 T76 Diagnostic_procedure 1378 1423 amplitude of compound muscle action potential E47 Diagnostic_procedure:T76 T77 Diagnostic_procedure 1425 1429 CMAP E48 Diagnostic_procedure:T77 R36 IDENTICAL Arg1:E48 Arg2:E47 T79 Biological_structure 1438 1451 nerves trunks R40 MODIFY Arg1:T79 Arg2:E45 R41 MODIFY Arg1:T79 Arg2:E46 R42 MODIFY Arg1:T79 Arg2:E47 T80 Detailed_description 1622 1660 both alleles (254 and 298) of FXN gene R43 MODIFY Arg1:T80 Arg2:E43 T81 Disease_disorder 1813 1845 Ataxia with vitamin E deficiency E49 Disease_disorder:T81 A6 POLARITY E49 UNCERTAIN T82 Sign_symptom 1899 1909 titubation E50 Sign_symptom:T82 A7 POLARITY E50 UNCERTAIN T83 Disease_disorder 1768 1772 FRDA E51 Disease_disorder:T83 T84 Sign_symptom 1914 1926 hyperkinesia E52 Sign_symptom:T84 A8 POLARITY E52 UNCERTAIN T85 Disease_disorder 1847 1851 AVED E53 Disease_disorder:T85 R44 IDENTICAL Arg1:E53 Arg2:E49 T86 Coreference 1946 1950 AVED E54 Coreference:T86 R45 IDENTICAL Arg1:E54 Arg2:E49 T87 Family_history 1955 2024 strong family history of ataxia and diabetes mellitus in elder sister T88 Coreference 1886 1890 FRDA E55 Coreference:T88 R46 IDENTICAL Arg1:E55 Arg2:E51 T89 Coreference 2034 2038 FRDA E56 Coreference:T89 R47 IDENTICAL Arg1:E56 Arg2:E55 T90 Disease_disorder 2040 2070 Ataxia with oculomotor apraxia E57 Disease_disorder:T90 A9 POLARITY E57 NEG T91 Disease_disorder 2072 2075 AOA E58 Disease_disorder:T91 R48 IDENTICAL Arg1:E58 Arg2:E57 T92 Sign_symptom 2128 2155 apraxia of ocular movements E59 Sign_symptom:T92 A10 POLARITY E59 NEG T93 Detailed_description 2077 2090 types 1 and 2 R49 MODIFY Arg1:T93 Arg2:E57 T94 Sign_symptom 2157 2174 distal amyotrophy E60 Sign_symptom:T94 T95 Sign_symptom 2183 2217 axonal sensorimotor polyneuropathy E61 Sign_symptom:T95 T96 Severity 2176 2182 severe R50 MODIFY Arg1:T96 Arg2:E61 T97 Sign_symptom 2220 2227 atrophy E62 Sign_symptom:T97 A11 POLARITY E60 NEG A12 POLARITY E61 NEG A13 POLARITY E62 NEG T98 Biological_structure 2231 2241 cerebellum T99 Sign_symptom 2246 2267 involuntary movements E63 Sign_symptom:T99 A14 POLARITY E63 NEG R51 MODIFY Arg1:T98 Arg2:E62 T100 Disease_disorder 2270 2291 Ataxia telengiectesia E64 Disease_disorder:T100 A15 POLARITY E64 NEG T101 Sign_symptom 2344 2366 Muco-cutaneous markers E65 Sign_symptom:T101 A16 POLARITY E65 NEG T102 Sign_symptom 2383 2393 infections E66 Sign_symptom:T102 A17 POLARITY E66 NEG T103 Biological_structure 2368 2382 sino-pulmonary R52 MODIFY Arg1:T103 Arg2:E66 T104 Sign_symptom 2395 2417 hypogammaglobulinaemia E67 Sign_symptom:T104 A18 POLARITY E67 NEG T105 Sign_symptom 2422 2438 radiosensitivity E68 Sign_symptom:T105 A19 POLARITY E68 NEG T106 Sign_symptom 2496 2505 neoplasms E69 Sign_symptom:T106 A20 POLARITY E69 NEG T107 Disease_disorder 2661 2718 autosomal recessive spastic ataxia of Charlevoix-Saguenay E70 Disease_disorder:T107 A21 POLARITY E70 NEG T108 Disease_disorder 2723 2749 Marinesco-Sjögren syndrome E71 Disease_disorder:T108 A22 POLARITY E71 NEG T109 Disease_disorder 2601 2635 autosomal recessive spastic ataxia E72 Disease_disorder:T109 R53 CAUSE Arg1:E70 Arg2:E72 R54 CAUSE Arg1:E71 Arg2:E72 T110 Disease_disorder 2751 2778 Charcot-Marie-Tooth disease E73 Disease_disorder:T110 A23 POLARITY E73 NEG T111 Sign_symptom 2812 2823 gait ataxia E74 Sign_symptom:T111 T112 Disease_disorder 2868 2871 CMT E75 Disease_disorder:T112 R55 IDENTICAL Arg1:E75 Arg2:E73 T113 Sign_symptom 2935 2949 motor weakness E76 Sign_symptom:T113 A24 POLARITY E76 NEG T114 Medication 3054 3063 Idebenone E77 Medication:T114 T115 Dosage 3089 3107 450 mg twice a day T116 Therapeutic_procedure 3157 3170 physiotherapy E78 Therapeutic_procedure:T116 T117 Therapeutic_procedure 3171 3189 Frenkel's exercise E79 Therapeutic_procedure:T117 R56 SUB_PROCEDURE Arg1:E79 Arg2:E78 T118 Diagnostic_procedure 3205 3218 Blood glucose E80 Diagnostic_procedure:T118 T119 Date 3246 3254 4 months E81 Date:T119 T120 Sign_symptom 2951 2968 retained reflexes E82 Sign_symptom:T120 T121 Sign_symptom 2970 2998 bilaterally extensor plantar E83 Sign_symptom:T121 T122 Sign_symptom 3003 3026 pure sensory neuropathy E84 Sign_symptom:T122 T123 Diagnostic_procedure 3030 3052 nerve conduction study E85 Diagnostic_procedure:T123 T124 Detailed_description 3116 3138 antioxidant properties R57 MODIFY Arg1:T124 Arg2:E77 T125 Diagnostic_procedure 3295 3310 gait difficulty E86 Diagnostic_procedure:T125 T126 Severity 3266 3287 no significant change R58 MODIFY Arg1:T126 Arg2:E86 T127 Frequency 3232 3241 regularly R59 MODIFY Arg1:T127 Arg2:E80 T128 Coreference 2647 2651 FRDA E87 Coreference:T128 R60 IDENTICAL Arg1:E87 Arg2:E89 T129 Coreference 2839 2843 FRDA E88 Coreference:T129 R61 IDENTICAL Arg1:E88 Arg2:E87 T130 Coreference 2565 2569 FRDA E89 Coreference:T130 T131 Coreference 2556 2560 AOAs E90 Coreference:T131 T132 Coreference 2325 2342 AOA types 1 and 2 E91 Coreference:T132 R62 IDENTICAL Arg1:E91 Arg2:E57 R63 IDENTICAL Arg1:E90 Arg2:E91 R64 IDENTICAL Arg1:E89 Arg2:E56 T133 Lab_value 361 378 poorly controlled R65 MODIFY Arg1:T133 Arg2:E12 T134 Sign_symptom 300 321 difficulty in walking E92 Sign_symptom:T134 T42 Diagnostic_procedure 867 884 myotatic reflexes E24 Diagnostic_procedure:T42 T135 Lab_value 851 863 exaggeration E93 Lab_value:T135 R66 MODIFY Arg1:E93 Arg2:E24 T52 Diagnostic_procedure 1093 1106 blood glucose E31 Diagnostic_procedure:T52 T136 Detailed_description 1068 1075 Fasting T137 Detailed_description 1080 1092 postprandial R25 MODIFY Arg1:T136 Arg2:E31 R67 MODIFY Arg1:T137 Arg2:E31 T53 Lab_value 1119 1125 normal E94 Lab_value:T53 R68 MODIFY Arg1:E94 Arg2:E31 R69 MODIFY Arg1:T66 Arg2:E39 R70 MODIFY Arg1:T67 Arg2:E39 R71 MODIFY Arg1:E4 Arg2:E3 T25 Lab_value 122 128 normal E95 Lab_value:T25 R9 MODIFY Arg1:E95 Arg2:E7 R5 MODIFY Arg1:E10 Arg2:E92 T26 Lab_value 547 553 normal E96 Lab_value:T26 R10 MODIFY Arg1:E96 Arg2:E13 T28 Lab_value 591 596 30/30 E97 Lab_value:T28 R11 MODIFY Arg1:E97 Arg2:E14 T31 Lab_value 640 646 normal E98 Lab_value:T31 R12 MODIFY Arg1:E98 Arg2:E16 R13 MODIFY Arg1:E98 Arg2:E15 T37 Lab_value 708 714 normal E99 Lab_value:T37 R16 MODIFY Arg1:E99 Arg2:E17 T40 Lab_value 794 800 normal E100 Lab_value:T40 R17 MODIFY Arg1:E100 Arg2:E23 R18 MODIFY Arg1:E100 Arg2:E22 T46 Lab_value 973 979 intact E101 Lab_value:T46 R21 MODIFY Arg1:E101 Arg2:E27 R22 MODIFY Arg1:E101 Arg2:E26 T48 Lab_value 998 1006 positive E102 Lab_value:T48 R23 MODIFY Arg1:E102 Arg2:E28 T58 Lab_value 1183 1189 normal E103 Lab_value:T58 R26 MODIFY Arg1:E103 Arg2:E35 R27 MODIFY Arg1:E103 Arg2:E34 R28 MODIFY Arg1:E103 Arg2:E33 R29 MODIFY Arg1:E103 Arg2:E32 T61 Lab_value 1243 1249 normal E104 Lab_value:T61 R30 MODIFY Arg1:E104 Arg2:E37 R31 MODIFY Arg1:E104 Arg2:E36 T72 Lab_value 1288 1294 absent E105 Lab_value:T72 R72 MODIFY Arg1:E105 Arg2:E44 T78 Lab_value 1331 1337 normal E106 Lab_value:T78 R37 MODIFY Arg1:E106 Arg2:E45 R38 MODIFY Arg1:E106 Arg2:E46 R39 MODIFY Arg1:E106 Arg2:E47 T68 Lab_value 1536 1542 normal E107 Lab_value:T68 R33 MODIFY Arg1:E107 Arg2:T67 T138 Disease_disorder 1685 1712 autosomal recessive ataxias E108 Disease_disorder:T138 T139 Coreference 2522 2543 ataxia telengiectasia E109 Coreference:T139 R73 IDENTICAL Arg1:E109 Arg2:E64 R74 CAUSE Arg1:E87 Arg2:E72 T140 Disease_disorder 2793 2807 polyneuropathy E110 Disease_disorder:T140 T141 Detailed_description 2783 2792 inherited R75 MODIFY Arg1:T141 Arg2:E110 R76 IDENTICAL Arg1:E110 Arg2:E73 R77 AFTER Arg1:E1 Arg2:E3 R2 MODIFY Arg1:T11 Arg2:E3 R78 BEFORE Arg1:E3 Arg2:E7 * OVERLAP E7 E2 R79 AFTER Arg1:E2 Arg2:E8 * OVERLAP E8 E9 E92 E11 R80 MODIFY Arg1:T18 Arg2:E92 R81 BEFORE Arg1:E11 Arg2:E13 * OVERLAP E13 E14 E15 E16 E17 E20 E21 E22 E23 E24 E25 E26 E27 E28 E29 E30 R82 BEFORE Arg1:E30 Arg2:E31 * OVERLAP E31 E32 E33 E34 E35 E36 E37 E38 E44 E45 E46 E47 R83 BEFORE Arg1:E47 Arg2:E39 * OVERLAP E39 E41 E43 R84 BEFORE Arg1:E43 Arg2:E77 * OVERLAP E77 E78 R85 BEFORE Arg1:E78 Arg2:E80 * OVERLAP E80 E81 E86