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Table 1 Description of the main mutations

From: Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases

  Ser50Arg
n = 83
Gly47Ala
n = 14
Ser52Pro
n = 12
V122I /Y116H
n = 2
Female gender 44 (53%) 9 (64%) 5 (42%) 1 (50%)
Age 35 ± 12 (18-77) 36 ± 12.2 (19-55) 33 ± 13.9 (20-59) 62 ± 16.9 (50-74)
Place of Origin Guanajuato 0 0 12 (100%) 0
 Guerrero 39 (47%) 5 (36%) 0 2 (100%)
 Morelos 32 (39%) 8 (57%) 0 0
 Ciudad de México 12 (14%) 0 0 0
 Other states 0 1 (7%) 0 0
Number of Pedigrees 16 2 1 1
Age of onset of symptoms 35 ± 10 35 ± 14 36 ± 14 65
Symptomatic patients 52 (62%) 7 (50%) 6 (50%) 1 (50%)
Initial symptom neurological 34 (65%) 5 (71%) 5 (83%) 1 (100%)
Autonomic 6 (12%) 0 1 (17%) 0
Cardiological 3 (6%) 0 0 0
Gastrointestinal 9 (17%) 2 (29%) 0 0
Ophthalmologic   0 0 0
Difficulty walking at the time of study 17 (20%) 3 (21%) 3 (25%) 0
Clinical Stage PNP to the admission
 Stage 0 32 (38%) 7 (50%) 7 (58%) 0
 Stage 1 20 (24%) 3 (21%) 2 (17%) 1 (50%)
 Stage 2 25 (30%) 2 (14%) 2 (17%) 0
 Stage 3a 4 (5%) 0 1 (8%) 0
 Stage 4 2 (2%) 2 (14%) 0 1 (50%)
 Death during the study 8 (10%) 1 (7%) 2 (17%) 0