Table 1.

Patients’ characteristics

Case	#1	#2	#3	#4	#5	#6	#7	#8	#9	#10	#11	#12	#13	#14	#15	#16
Age at death	48	46	37	50	38	36	28	54	48	36	43	41	56	69	68	63
Sex	M	M	M	F	M	F	M	F	M	F	M	F	F	F	F	F
Mutation	–	–	–	V30M	S52P	V30M	V30M	V30M*	V30M	V30M	V30M	V30M	V30M	V30M	V30M	V30M
Age at disease onset	41	33	26	39	30	30	24	48	43	30	31	39	37	52	52	34
Disease duration	7	13	13	11	8	6	4	6	5	6	12	3	19	17	16	29
Cause of death	Liver failure	Cardiac arrest	Sepsis	Cardiac arrest	Sepsis	Sepsis	Sepsis	Liver failure	Liver failure	Liver failure	Sepsis	Liver failure	Cachexia	Sepsis	Pneumonia	Renal failure
TTR-FAP disease stage	3	na	3	3	2	1	na	2	2	1	1	1	3	1	3	3
Intracerebral hemorrhage	–	–	–	–	–	–	–	–	–	–	–	–	–	pons	lobar + pons	–
Ischemic stroke	–	LACI	–	–	–	–	–	–	–	–	–	–	–	–	–	–
Cognitive complaints	–	–	–	–	–	–	–	–	–	–	–	–	–	yes	yes	yes
Cranial nerve dysfunction	XII	–	VII, XII	XII	XII	–	–	–	–	–	–	–	VII	VII	–	–
Liver transplant	0	0	0	0	1	1	1	1	1	1	1	1	0	1	1	1

VII: difacial palsy, face fasciculations

XII: tongue fasciculations and/or tongue atrophy

FAP disease stage: 1: symptomatic disease, walks unassisted; 2: walks with assistance; 3: limited to wheelchair

LACI: Lacunar infarct; in this case (#2) a motor lacunar syndrome (isolated hemiplegia with ipsilateral central facial palsy)

*Homozygous mutation