Table 1.

Demographic, disability scale and brain MRI volume values of cerebrotendinous xanthomatosis (CTX) patients

Demographical data				Disability		Brain MRI volumes
Pt no.	Sex	Age exam.	Age diag.	MRS	EDSS	NBV	NGMV	NWMV	NCV	NFV	NTV	NPV	NIV	NOV	NCbV	DN lesions
1	F	29	29	1	2	1530	681	849	555	211	128	123	20	73	170	1
2	M	56	31	3	4	1308	589	719	494	162	131	109	22	70	125	2
3	M	27	21	1	3	1707	846	860	686	251	168	156	27	84	201	2
4	F	35	34	3	5	1510	639	871	495	189	119	106	19	62	121	3
5	M	37	36	4	7	1492	649	843	498	193	106	118	22	59	123	3
6	M	48	45	4	7	1508	674	834	525	199	106	126	21	72	144	4
7	M	47	37	3	4	1390	669	720	566	198	147	121	28	71	155	1
8	M	45	31	2	3	1488	742	746	626	226	152	128	25	96	127	1
9	F	49	27	1	3	1466	662	804	531	172	151	112	25	72	165	1
10	M	44	43	2	4	1498	671	827	523	189	145	96	22	71	158	2
11	F	57	54	2	3.5	1452	634	818	489	181	117	103	24	64	152	1
12	F	63	36	3	3.5	1555	628	926	528	190	127	122	25	64	143	1
13	F	62	43	2	3	1441	614	827	521	180	131	115	23	72	180	1
14	F	62	48	1	1.5	1484	667	818	525	190	143	116	27	73	194	0
15	F	24	18	1	2	1729	863	865	699	253	171	160	26	88	153	0
16	F	33	32	2	3	1520	699	821	533	202	126	105	33	74	150	0
17	M	30	25	1	1.5	1635	797	838	698	235	167	156	33	98	167	0
18	M	20	13	1	1	1718	870	848	776	280	178	180	36	104	197	0
19	F	31	22	1	2	1684	874	810	781	269	193	185	27	97	158	0

Pt, patient; Age exam., age of the patient when examined; Age diag., age of the patient when first diagnosed; MRS, modified Rankin scale; EDSS, expanded disability status scale; NBV, normalized brain parenchimal volumes; NWMV, normalized white matter volume; NGMV, normalized grey matter volume; NCV, normalized cortical volumes; NFV, normalized frontal volume; NTV, normalized temporal volume; NPV, normalized parietal volume; NIV, normalized insula volume; NOV, normalized occipital volume; NCbV, normalized volume of the cerebellum; DN lesions, dentate nuclei lesions qualitatively assessed from 0 (no involvement) to 4 (maximum involvement). CTXwD: patients 1–13. CTXnD: patients 14–19.