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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
  1. a Genotypes with no more than 3 subjects.including Phe33Val (three subjects); Glu54Lys, Phe33Leu, Val50Leu, Thr49Ala, Leu75Pro (two subjects each), Tyr114Cys, Ile107Met, Lys35Asn, Asp38Val, Gly53Glu, Glu54Gln, Glu42Gly, Tyr116Ser, Phe84Ser, Glu74Lys (one subject each)