Table 3.
Neurological characteristics of Glu54Gln-mutated ATTR
| Neurological characteristics at diagnosis for symptomatic patients | Glu54Gln ATTR | |
|---|---|---|
| NIS-LL, mean, range (N = 8) | 13.4 [4–26] | |
| mBMI, (g/l) x (kg/m2), mean, range (N = 8) | 1084 [611–1444] | |
| PND scale (8 patients) | Grade I, n (%) | 5 (63%) |
| Grade II, n (%) | 3 (37%) | |
| Polyneuropathy, n (%) (N = 13) | 12 (92%) | |
| Carpal tunnel syndrome, n (%) (N = 13) | 7 (53%) | |
| Orthostatic hypotension, n (%) (N = 13) | 9 (69%) | |
| Diarrhea, n (%) (N = 13) | 4 (31%) | |
| Constipation, n (%) (N = 13) | 5 (38%) | |
| Weight loss, n (%) (N = 13) | 8 (62%) | |
mBMI modified body mass index, NIS-LL neuropathy impairment score of lower limbs, PND polyneuropathy disability score