Table 4 Neurological presentation distributions of 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 |
Sensory/motor | 91 | 10 | 20 | 10 | 4 | 7 | 6 | 6 | 1 | 5 | 4 | 18 |
Lower limbs numbness | 80 | 4 | 20 | 6 | 4 | 6 | 6 | 6 | 1 | 5 | 4 | 18 |
Upper limbs numbness | 80 | 10 | 20 | 2 | 4 | 7 | 5 | 6 | 0 | 5 | 3 | 18 |
Muscular atrophy/weakness | 69 | 0 | 20 | 4 | 4 | 4 | 6 | 6 | 0 | 5 | 4 | 16 |
Autonomic | 73 | 0 | 20 | 10 | 4 | 4 | 0 | 6 | 0 | 5 | 3 | 21 |
Diarrhea/constipation | 52 | 0 | 19 | 8 | 4 | 3 | 0 | 2 | 0 | 0 | 2 | 14 |
Nausea/vomiting | 29 | 0 | 16 | 8 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 5 |
Weight loss/anorexia | 26 | 0 | 2 | 8 | 0 | 0 | 0 | 2 | 0 | 0 | 1 | 13 |
Orthostatic hypotension | 41 | 0 | 4 | 9 | 0 | 3 | 0 | 4 | 0 | 4 | 1 | 16 |
Syncope/dizziness | 15 | 0 | 0 | 2 | 0 | 0 | 0 | 4 | 0 | 4 | 1 | 4 |
Erectile dysfunction | 21 | 0 | 12 | 0 | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 5 |
Urinary | 25 | 0 | 16 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 |