Table 3 Presentation distributions of 126 hATTR cases
From: Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China
Feature | All | Gly83Arg | Val30Met | Val30Ala | Leu55Arg | Ala36Pro | Lys35Thr | Gly47Arg | Asp18Gly | Gly47Glu | Ala117Ser | Othera |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
(p.Gly103Arg) | (p.Val50Met) | (p.Val50Ala) | (p.Leu75Arg) | (p.Ala56Pro) | (p.Lys55Thr) | (p.Gly67Arg) | (p.Asp38Gly) | (p.Gly67Glu) | (p.Ala137Ser) | |||
N | 126 | 25 | 20 | 10 | 9 | 9 | 8 | 6 | 6 | 6 | 4 | 23 |
Cardiologic | 39 (30.95%) | 1 | 3 | 10 | 0 | 2 | 0 | 6 | 0 | 4 | 2 | 11 |
Autonomic | 73 (57.94%) | 0 | 20 | 10 | 4 | 4 | 0 | 6 | 0 | 5 | 3 | 21 |
Sensory/Motor | 91 (72.22%) | 10 | 20 | 10 | 4 | 7 | 6 | 6 | 1 | 5 | 4 | 18 |
Visual | 63 (50.00%) | 25 | 1 | 1 | 9 | 7 | 7 | 3 | 0 | 0 | 0 | 10 |
Other | 18 (14.29%) | 0 | 0 | 4 | 2 | 0 | 0 | 2 | 5 | 0 | 0 | 5 |
Skin problem | 3 (2.38%) | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
Neuropsychiatric problem | 6 (4.76%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 5 | 0 | 0 | 1 |
Hearing loss | 5 (3.97%) | 0 | 0 | 2 | 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
Leptormeningeal enhancement | 7 (5.56%) | 0 | 0 | 1 | 0 | 0 | 0 | 2 | 2 | 0 | 0 | 2 |
Main | ||||||||||||
Neurological | 58 (46.03%) | 9 | 17 | 0 | 4 | 4 | 6 | 0 | 6 | 0 | 2 | 10 |
Cardiac | 3 (2.38%) | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 |
Mixed | 38 (30.16%) | 1 | 2 | 10 | 0 | 2 | 0 | 6 | 0 | 4 | 2 | 11 |