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 |