198 lines (197 with data), 6.6 kB
T1 Age 17 28 19-year-old
T2 Sex 29 34 woman
T3 Family_history 82 113 family history was unremarkable
T4 Family_history 36 76 first child of healthy unrelated parents
T5 History 123 160 born at term after a normal pregnancy
T6 Diagnostic_procedure 206 223 early development
E1 Diagnostic_procedure:T6
T7 Lab_value 243 249 normal
R1 MODIFY Arg1:T7 Arg2:E1
T8 Diagnostic_procedure 166 182 perinatal period
E2 Diagnostic_procedure:T8
T9 Lab_value 187 197 uneventful
R2 MODIFY Arg1:T9 Arg2:E2
T10 Date 261 274 1 year of age
E3 Date:T10
T11 Disease_disorder 276 293 psychomotor delay
E4 Disease_disorder:T11
T12 Diagnostic_procedure 367 374 balance
E5 Diagnostic_procedure:T12
T13 Lab_value 362 366 poor
R3 MODIFY Arg1:T13 Arg2:E5
T14 Sign_symptom 388 393 falls
E6 Sign_symptom:T14
T15 Frequency 379 387 frequent
R4 MODIFY Arg1:T15 Arg2:E6
T16 Date 346 355 22 months
E7 Date:T16
T17 Activity 322 329 walking
E8 Activity:T17
T18 Detailed_description 330 342 autonomously
R5 MODIFY Arg1:T18 Arg2:E8
T19 Date 398 412 3 years of age
E9 Date:T19
T20 Disease_disorder 430 467 demyelinating sensorimotor neuropathy
E10 Disease_disorder:T20
T21 Diagnostic_procedure 480 483 MRI
E11 Diagnostic_procedure:T21
T22 Biological_structure 474 479 brain
R6 MODIFY Arg1:T22 Arg2:E11
T23 Disease_disorder 509 523 leukodystrophy
E12 Disease_disorder:T23
T24 Biological_structure 494 508 supratentorial
R7 MODIFY Arg1:T24 Arg2:E12
T25 Diagnostic_procedure 551 565 clinical signs
E13 Diagnostic_procedure:T25
T26 Lab_value 575 581 stable
R8 MODIFY Arg1:T26 Arg2:E13
T27 Date 586 594 10 years
E14 Date:T27
T28 Disease_disorder 600 620 walking difficulties
E15 Disease_disorder:T28
A1 TREND E15 INC
T29 Lab_value 621 629 worsened
R9 MODIFY Arg1:T29 Arg2:E15
T30 Sign_symptom 640 648 weakness
E16 Sign_symptom:T30
T31 Biological_structure 635 639 limb
R10 MODIFY Arg1:T31 Arg2:E16
T32 Sign_symptom 653 659 tremor
E17 Sign_symptom:T32
T33 Diagnostic_procedure 672 695 neurological evaluation
E18 Diagnostic_procedure:T33
T34 Sign_symptom 703 713 dysarthria
E19 Sign_symptom:T34
T35 Sign_symptom 715 724 dysmetria
E20 Sign_symptom:T35
T36 Diagnostic_procedure 733 737 gait
E21 Diagnostic_procedure:T36
T37 Lab_value 726 732 ataxic
R11 MODIFY Arg1:T37 Arg2:E21
T38 Sign_symptom 742 754 hyporeflexia
E22 Sign_symptom:T38
T39 Biological_structure 762 772 four limbs
R12 MODIFY Arg1:T39 Arg2:E22
T40 Disease_disorder 778 792 muscle wasting
E23 Disease_disorder:T40
T41 Diagnostic_procedure 857 861 gait
E24 Diagnostic_procedure:T41
T42 Lab_value 850 856 ataxic
R13 MODIFY Arg1:T42 Arg2:E24
T43 Disease_disorder 868 888 cognitive impairment
E25 Disease_disorder:T43
T44 Severity 863 867 Mild
R14 MODIFY Arg1:T44 Arg2:E25
T45 Diagnostic_procedure 905 907 IQ
E26 Diagnostic_procedure:T45
T46 Detailed_description 912 924 WISC-R scale
R15 MODIFY Arg1:T46 Arg2:E26
T47 Lab_value 908 910 75
R16 MODIFY Arg1:T47 Arg2:E26
T48 Activity 810 814 walk
E27 Activity:T48
T49 Lab_value 821 841 only for a few steps
T50 Detailed_description 815 820 alone
R17 MODIFY Arg1:T50 Arg2:E27
R18 MODIFY Arg1:T49 Arg2:E27
T51 Diagnostic_procedure 927 948 Histological analysis
E28 Diagnostic_procedure:T51
T52 Diagnostic_procedure 961 967 biopsy
E29 Diagnostic_procedure:T52
T53 Biological_structure 954 960 muscle
R19 MODIFY Arg1:T53 Arg2:E29
R20 SUB_PROCEDURE Arg1:E29 Arg2:E28
T54 Sign_symptom 975 987 hypo/atrophy
E30 Sign_symptom:T54
T55 Biological_structure 991 997 fibres
R21 MODIFY Arg1:T55 Arg2:E30
T56 Diagnostic_procedure 1003 1021 clinical evolution
E31 Diagnostic_procedure:T56
T57 Lab_value 1026 1044 slowly progressive
R22 MODIFY Arg1:T57 Arg2:E31
T58 Clinical_event 1058 1067 follow-up
E32 Clinical_event:T58
T59 Date 1084 1099 19 years of age
E33 Date:T59
T60 Activity 1117 1121 walk
E34 Activity:T60
T61 Detailed_description 1122 1127 alone
R23 MODIFY Arg1:T61 Arg2:E34
T62 Therapeutic_procedure 1149 1162 orthotic aids
E35 Therapeutic_procedure:T62
T63 Detailed_description 1138 1148 ankle-foot
R24 MODIFY Arg1:T63 Arg2:E35
R25 MODIFY Arg1:E35 Arg2:E34
T64 Disease_disorder 1204 1213 scoliosis
E36 Disease_disorder:T64
T65 Biological_structure 1190 1203 dorsal-lumbar
R26 MODIFY Arg1:T65 Arg2:E36
T66 Severity 1183 1189 marked
R27 MODIFY Arg1:T66 Arg2:E36
T67 Diagnostic_procedure 1221 1235 clinical signs
E37 Diagnostic_procedure:T67
T68 Lab_value 1241 1247 stable
R28 MODIFY Arg1:T68 Arg2:E37
T69 Diagnostic_procedure 1249 1275 Neurophysiological studies
E38 Diagnostic_procedure:T69
T70 Disease_disorder 1316 1351 demyelinating peripheral neuropathy
E39 Disease_disorder:T70
T71 Lab_value 1286 1295 worsening
T72 Biological_structure 1309 1315 axonal
T73 Detailed_description 1303 1308 mixed
R29 MODIFY Arg1:T72 Arg2:E39
R30 MODIFY Arg1:T73 Arg2:E39
R31 MODIFY Arg1:T71 Arg2:E39
A2 TREND E39 INC
T74 Diagnostic_procedure 1375 1378 MRI
E40 Diagnostic_procedure:T74
T75 Biological_structure 1363 1374 spinal cord
T76 Biological_structure 1353 1358 Brain
R32 MODIFY Arg1:T75 Arg2:E40
R33 MODIFY Arg1:T76 Arg2:E40
T77 Sign_symptom 1404 1424 signal abnormalities
E41 Sign_symptom:T77
T78 Sign_symptom 1439 1450 cavitations
E42 Sign_symptom:T78
T79 Severity 1429 1438 extensive
T80 Lab_value 1391 1400 extension
T81 Severity 1386 1390 mild
R34 MODIFY Arg1:T81 Arg2:T80
R35 MODIFY Arg1:T79 Arg2:E42
R36 MODIFY Arg1:T80 Arg2:E41
T82 Biological_structure 1458 1479 cerebral white matter
R37 MODIFY Arg1:T82 Arg2:E42
T83 Sign_symptom 1573 1580 lesions
E43 Sign_symptom:T83
A3 POLARITY E43 NEG
T84 Detailed_description 1567 1572 focal
R38 MODIFY Arg1:T84 Arg2:E43
T85 Diagnostic_procedure 1594 1608 Plasma lactate
E44 Diagnostic_procedure:T85
T86 Lab_value 1613 1619 2.9 mM
R39 MODIFY Arg1:T86 Arg2:E44
T87 Sign_symptom 1546 1550 thin
E45 Sign_symptom:T87
T88 Biological_structure 1530 1541 spinal cord
R40 MODIFY Arg1:T88 Arg2:E45
R41 MODIFY Arg1:T88 Arg2:E43
T89 Sign_symptom 1515 1521 spared
E46 Sign_symptom:T89
T90 Biological_structure 1500 1509 brainstem
T91 Biological_structure 1485 1495 cerebellum
R42 MODIFY Arg1:T90 Arg2:E46
R43 MODIFY Arg1:T91 Arg2:E46
R44 BEFORE Arg1:E2 Arg2:E1
R45 BEFORE Arg1:E1 Arg2:E3
* OVERLAP E3 E4
T92 Severity 301 308 evident
R46 MODIFY Arg1:T92 Arg2:E4
R47 BEFORE Arg1:E4 Arg2:E8
* OVERLAP E8 E7 E5 E6
R48 BEFORE Arg1:E6 Arg2:E9
* OVERLAP E9 E10 E11 E12
R49 BEFORE Arg1:E12 Arg2:E13
R50 BEFORE Arg1:E13 Arg2:E14
* OVERLAP E14 E15 E16 E17 E18 E19 E20 E21 E22 E23 E27 E24 E25 E26 E28 E30 E31
R51 BEFORE Arg1:E31 Arg2:E32
* OVERLAP E32 E33 E34 E35 E36 E37 E38 E39 E40 E41 E42 E46 E45 E43 E44