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Table 3 Neurological characteristics of Glu54Gln-mutated ATTR

From: Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population

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%)

  1. mBMI modified body mass index, NIS-LL neuropathy impairment score of lower limbs, PND polyneuropathy disability score