Table 1.

Characteristics of symptomatic ATTR patients with the Glu54Gln mutation

Patient [family]	Age at diagnosis	Diagnosis (year)	Mean time from diagnosis to onset (months)	Symptoms at onset	Peripheral nervous system dysfunction	Autonomic dysfunction	Cardiac features	Alive/deceased
1 [A]	48	2005	36	CTS Paresthesia	SM-PN CTS	OHT Dysphagia Diarrhea	HF	Deceased
2 [B]	43	2008	36	CTS	CTS	–	HF	Deceased
3 [C1*]	35	2012	11	HF Weight loss Paresthesia	Paresthesia	Diarrhea OHT	HF 1st degree AV block	Deceased
4 (C2*)	49	2017	24	Paresthesia Weight loss	SM-PN	OHT Constipation	HF 1st degree AV block SVES RBBB pericardial effusion	Alive
5 [D]	51	2016	48	Diarrhea Weight loss	SM-PN	Diarrhea OHT	HF AF	Alive
6 [E1*]	52	2017	9	Paresthesia Weight loss	SM-PN CTS	Constipation OHT	HF RBBB	Alive
7 [E2*]	47	2017	24	Paresthesia Weight loss	SM-PN	Constipation OHT	–	Alive
8[E3**]	47	2017	7	Paresthesia	SM-PN CTS	–	SVES	Alive
9 [F]	49	2017	36	Paresthesia	SM-PN CTS	–	HF 1st degree AV block AF	Alive
10 [G]	49	2017	60	Paresthesia	SM-PN CTS	Constipation	HF Trifascicular block Pericardial effusion	Alive
11 [H]	42	2018	6	Weight loss Gastroparesis	S-PN CTS	OHT Gastroparesis Diarrhea/constipation	HF 3rd degree AV block NSVT RBBB	Alive
12 [I1*]	41	2017	48	Paresthesia CTS Weight loss	SM-PN	Constipation OHT Urinary dysfunction	HF RBBB	Alive
13 [I2*]	46	2017	60	Paresthesia Weight loss	SM-PN	OHT	HF	Alive

AF atrial fibrillation, CTS carpal tunnel syndrome, HF heart failure, NSVT non-sustained ventricular tachycardia, OHT orthostatic hypotension, RBBB right bundle branch block, S-PN sensory polyneuropathy, SM-PN sensory motor polyneuropathy, SVES supraventricular

Letters A–I denote each family

*Siblings

**First cousins