Table 1.

Summary of individual mutations, clinical features and scoring in asymptomatic gene carriers and symptomatic TTR-FAP

Case	Age/Sex	Mutation	Age at Onset	Familiarity for neuropathy	Symptoms at onset	Associated clinical features	Amyloid in sural nerve	NSS	NDS	NIS-LL
Asymptomatic gene carriers
1	33/F	Val30Met	Asymptomatic	Yes	N/A	N/A	Not performed	0	0	0
2	35/F	Val30Met	Asymptomatic	Yes	N/A	N/A	Not performed	0	0	0
3	26/F	Leu58His	Asymptomatic	Yes	N/A	N/A	Not performed	0	0	0
4	33/F	Leu58His	Asymptomatic	Yes	N/A	N/A	Not performed	0	0	0
5	55/M	Val30Met	Asymptomatic	Yes	N/A	N/A	Not performed	0	0	0
6	66/M	Val30Met	Asymptomatic	Yes	N/A	N/A	Not performed	0	0	0
7	52/M	Tyr69His	Asymptomatic	No	Aphasia	Meningeal amyloidosis	Not performed	0	0	0
Symptomatic TTR-FAP
8	57/M	Val30Met	54	No	Lower limb painful paraesthesia	Gastrointestinal	Not performed	5	10	14
9	49/M	Val30Met	46	Yes	Upper and lower limb paraesthesia	No	Yes	6	10	19
10	35/F	Glu54Gly	31	Yes	Lower limb paraesthesia	Cardial	Yes	5	8	34
11	37/F	Phe64Val	34	Yes	Lower limb paraesthesia	Gastrointestinal Autonomic Cardial	Yes	5	10	42
12	46/F	Val30Met	42	Yes	Lower limb paraesthesia	Gastrointestinal Autonomic cardial	Not performed	5	10	48.5
13	26/F	Val30Met	25	Yes	Lower limb paraesthesia	No	Not performed	6	8	6
14	58/M	Ile107Val	49	No	Bilateral CTS	Cardial	No	6	10	36
15	59/M	Val30Met	56	Yes	Lower limb painful paraesthesia	Gastrointestinal Cardial	No	6	8	8
16	62/M	Val30Met	57	No		Cardial CTS	No	6	10	14
17	59/M	Val30Met	55	Yes	Lower limb paraesthesia	Cardial	No	5	10	12
18	58/M	Leu78His	51	Yes	Bilateral CTS	CTS	Yes	5	10	62
19	64/M	Thr60Ala	61	Yes	Lower limb paraesthesia	Cardial CTS	Yes	5	10	48.5
20	48/M	Glu54Gln	46	No	Lower limb paraesthesia	Cardial CTS	Yes	5	2	22

CTS = carpal tunnel syndrome; NDS = Neuropathy Deficit Score; NIS-LL = Neuropathy Impairment Score in the Lower Limbs; NSS = Neuropathy Symptom Score.