Table 1.

Characteristics of Patients with Hepatic or Neurologic WD

#	GP73 IH score	Age at Dx	Age at Onset	Sex	Cpl (mg/L)	KFR	Neu*	Liver− Histology †	Rhodanine	Hepatic Copper (mg/g)	WD Mutation
Hepatic WD
1	0	11	11	f	17.1	−	−	Fibrosis	−	847	H1069Q/?
2	5	n/a	n/a	f	>9	−	−	Cirrhosis	+	1115	H1069Q/?
3	0	24	24	m	21.0	−	−	Cirrhosis	−	79	?/?
4	5	15	15	m	14.6	−	−	Cirrhosis	−	1288	H1069Q/H1069Q
5	5	15	14	f	n/a	−	−	Cirrhosis	+	758	H1069Q/?
6	10	19	19	f	n/a	−	−	Cirrhosis	+	590	I1148T/?
7	60		33	m	low	−	−	Cirrhosis	+	264	H1069Q/?
8	10	12	12	f	<9	−	−	Cirrhosis	−	164	H1069Q/?
9	120	10	10	f	18.4	−	−	Fibrosis	+	1278	H1069Q/R816S
10	120	10	10	m	7.0	+	−	Cirrhosis	−	311	V883A−fs/V883A−fs
11	0	31	31	f	20.4	+	−	Fibrosis	+	115	2299insC/G1030S
12	120	31	18	m	21.6	_	−	Cirrhosis	+	2060	G710A/G710A
13	5	17	16	f	6.8	+	−	CH	−	525	3400delC/?
14	5	10	10	m	8.0	+	−	Fibrosis	−	31	V1217 1218Ldel/?
15	0	14	14	f	21.0	−	−	Fibrosis	−	1000	H1069Q/R969Q
16	200	40	8	m	6.0	−	−	Cirrhosis	n/a	645	R1319X/?
17	60	27	27	f	14.0	+	−	Cirrhosis	+	963	H1069Q/H1069Q
18	5	16	16	m	8.0	+	−	Cirrhosis	+	950	H1069Q/L1305P
19	120	23	20	f	8.1	+	+	Cirrhosis	n/a	266	H1069Q/H1069Q
Neurologic WD
20	5	27	27	m	7.0	+	+	Fibrosis	−	571	H1069Q/H1069Q
21	5	20	20	f	7.0	+	+	Cirrhosis	+	320	H1069Q/H1069Q
22	5	20	20	f	3.9	+	+	CH	−	1700	H1069Q/H1069Q
23	0	39	24	m	20.0	+	+	Cirrhosis	+	50	H1069Q/H1069Q
24	0	45	41	f	6.2	+	+	CH	−	475	K35X/?
25	0	17	15	m	6.2	+	+	Cirrhosis	+	192	G710S/L1305P
26	0	14	14	m	9.8	+	+	URH	−	1448	H1069Q/V1217−
27	0	16	16	f	7.0	+	+	CH	+	269	H1069Q/W779X
28	0	32	18	m	11.4	+	+	Fibrosis	−	386	H1069Q/H1069Q
29	5	47	44	f	9.1	+	+	URH	n/a	164	G710S/G710S
Asymptomatic siblings
30	5	32	32	f	17.4	+	−	Cirrhosis	+	533	H1069Q/H1069Q
31	0	25	25	f	low	−	−	CH	−	844	H1069Q/H1069Q

^*Neurological symptoms at presentation “−“ = absent, “+” = present

^†liver histology on biopsy or explant: CH, chronic hepatitis; URH, unspecific reactive hepatitis.