Table 1.
Demographic, clinical and pathological findings of the entire hATTR cohort and of the most frequently detected mutations.
| All Patients | Phe64Leu | Val30Met | Glu89Gln | Tyr68Phe | |
|---|---|---|---|---|---|
| Number of patients | 67 | 26 | 24 | 6 | 3 |
| M/F | 54/13 | 22/4 | 20/4 | 5/1 | 3/0 |
| Age at onset | 64.1 | 68.7 | 67.3 | 48.2 | 63.3 |
| Age at biopsy | 67.0 | 71.1 | 69.6 | 55.3 | 64.7 |
| Disease duration at biopsy (years) | 2.9 | 2.4 | 2.3 | 7.1 | 3.4 |
| Origin | |||||
| Northern Italy | 13/67 (19.4%) | 1/26 (3.8%) | 8/24 (33.3%) | 0/6 (0.0%) | 2/3 (66.7%) |
| Central Italy | 19/67 (28.3%) | 2/26 (7.6%) | 15/24 (62.5%) | 0/6 (0.0%) | 0/3 (0.0%) |
| Southern Italy | 33/67 (49.3%) | 23/26 (88.6%) | 0/24 (0.0%) | 6/6 (100%) | 1/3 (33.3%) |
| Other countries | 2/67 (3.0%) | 0/26 (0.0%) | 1/24 (4.2%) | 0/6 (0.0%) | 0/3 (0.0%) |
| Polyneuropathy | |||||
| Axonal | 54/67 (80.6%) | 23/26 (88.5%) | 21/24 (87.5%) | 4/6 (66.7%) | 1/3 (33.3%) |
| Mixed | 11/67 (16.4%) | 3/26 (11.5%) | 2/24 (8.3%) | 2/6 (33.3%) | 1/3 (33.3%) |
| Demyelinating | 2/67 (3.0%) | 0/26 (0.0%) | 1/24 (4.2%) | 0/6 (0.0%) | 1/3 (33.3%) |
| Cardiomyopathy | 47/67 (70.2%) | 14/26 (53.9%) | 20/24 (83.4%) | 5/6 (83.3%) | 1/3 (33.3%) |
| Autonomic disturbances | 43/67 (64.2%) | 21/26 (80.8%) | 10/24 (41.7%) | 5/6 (83.3%) | 2/3 (66.7%) |
| Weight loss | 34/67 (50.8%) | 17/26 (65.4%) | 10/24 (41.7%) | 2/6 (33.3%) | 1/3 (33.3%) |
| Congo red positive abdominal fat needle aspiration | 8/20 (40.0%) | 1/6 (16.6%) | 6/11 (54.5%) | - | 1/1 (100%) |
| Number of biopsies | 69 | 27 | 24 | 6 | 3 |
| Congo red positive nerve biopsy | 50/69 (72.5%) | 13/27 (48.2%) | 21/24 (87.5%) | 5/6 (83.3%) | 2/3 (66.7%) |
| Axonal loss | |||||
| Slight | 4/69 (5.8%) | 0/27 (0.0%) | 0/24 (0.0%) | 0/6 (0.0%) | 1/3 (33.3%) |
| Moderate | 15/69 (21.7%) | 1/27 (3.7%) | 7/24 (29.2%) | 2/6 (33.3%) | 2/3 * (66.7%) |
| Severe | 42/69 (60.9%) | 24/27 (88.9%) | 13/24 (54.2%) | 4/6 (66.7%) | 0/3 (0.0%) |
| Total | 8/69 (11.6%) | 2/27 (7.4%) | 4/24 (16.7%) | 0/6 (0.0%) | 0/3 (0.0%) |
| Myelin abnormalities | 10/69 (14.5%) | 4/27 (14.8%) | 2/24 (8.3%) | 1/6 (16.7%) | 2/3 (66.7%) |
| Inflammatory infiltrates | 4/69 (5.8%) | 1/27 (3.7%) | 0/24 (0.0%) | 0/6 (0.0%) | 0/3 (0.0%) |
Legend to the Table: Northern Italy includes Lombardy, Piedmont, Veneto, Alto-Adige, Liguria, Emilia-Romagna and Tuscany; Central Italy includes Lazio, Campania and Abruzzo; Southern Italy includes Sicily, Apulia and Calabria; other countries include Macedonia and Holland. All Glu89Gln cases are from Sicily; all 11 Val30Met cases are from Lazio. * One of these two biopsies showed an inhomogeneous interfascicular fiber loss.