Neurodegeneration or dysfunction in Phelan-McDermid syndrome? A multimodal approach with CSF and computational MRI

Table 1 CSF parameters of PMS patients. Data including white cell count/µl, total protein in mg/dl, lactate in mmol/l, intrathecal IgG synthesis, oligoclonal bands, tau protein in pg/ml (reference range < 400 pg/mL), amyloid-ß in pg/ml (reference range > 600 pg/mL), CXCL13 in pg/ml, pNF-H in pg/ml, amyloid-ß 42/40, p-Tau 181 in pg/ml

No	White cell count	Total protein	Lactate	Intrathecal IgG synthesis	OCB	Tau	p-Tau	Aß	Aß 42/40	CXCl13	pNF-H
1	3	404	1,16	no	no	424	< 60	533	> 0,07	< 4	< 188
2	0	157	1	no	no	75	< 60	342	> 0,07	< 4	< 188
3	2	347	1,5	no	no	212	< 60	813	> 0,07	< 4	< 188
4	1	340	1,6	no	no	163	< 60	1088	> 0,07	< 4	< 188
5	0	549	1,85	no	no	452	< 60	1025	> 0,07	< 4	< 188
6	2	697	1,8	no	no	489	< 60	781	> 0,07	< 4	< 188
7	1	136	0,89	no	no	137	< 60	414	> 0,07	< 4	< 188
8	1	157	1,09	no	no	327	< 60	331	> 0,07	< 4	< 188
9	0	263	1,4	no	no	142	< 60	464	> 0,07	< 4	< 188
10	0	146	1,09	no	no	197	< 60	370	> 0,07	< 4	< 188
11	0	301	1,36	no	no	183	< 60	569	> 0,07	< 4	< 188
12	1	321	1,16	no	no	258	< 60	613	> 0,07	< 4	< 188
13	0	287	0,92	no	no	264	< 60	1137	> 0,07	< 4	< 188
14	1	171	0,98	no	no	462	< 60	803	> 0,07	< 4	< 188
15	1	256	0,92	no	no	357	< 60	1007	> 0,07	< 4	< 188
16	1	176	1,18	no	no	270	< 60	1195	> 0,07	< 4	< 188
17	3	140	1,17	no	no	81	< 60	332	> 0,07	< 4	< 188
18	0	137	0,96	no	no	544	< 60	618	> 0,07	< 4	< 188
19	1	185	1,08	no	no	201	< 60	663	> 0,07	< 4	< 188

Abbreviations: OCB = oligoclonal bands, Aß = amyloid-ß, CXCL13 = C-X-C motif chemokine 13, pNF-H = neurofilament heavy chain

ISSN: 1750-1172