Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1

Table 1 Demographic and clinical characteristics of patients with Gaucher disease type 1 (n = 23)

Patient	Gender	Age (years)	Genotype	3′-UTR SNP (rs708606) Allele1/Allele2	SPX	Age at diagnosis (years)	Treatment duration (years)	Current treatment	Severity Scores		Hb (g/dL)	Plat (× 10⁹/L)	Current ChT activity (nmol/hr./mL)
Patient	Gender	Age (years)	Genotype	3′-UTR SNP (rs708606) Allele1/Allele2	SPX	Age at diagnosis (years)	Treatment duration (years)	Current treatment	SSI	DS3	Hb (g/dL)	Plat (× 10⁹/L)	Current ChT activity (nmol/hr./mL)
1	M	22	N370S/G202R	C/C	N	8	14	ERT	0	0	14.7	181	3338
2	F	23	N370S/L444P	C/T	N	20	3	ERT	2	0.7	13.2	191	4943
3	F	23	N370S/RecNciI	C/C	N	7	15	ERT	0	0	11.8	277	399
4	F	25	N370S/L444P	C/C	N	15	10	ERT	0	0	13.2	152	389
5	M	26	N370S/IVS9 + 1G > A	C/T	N	10	15	ERT	4	1.7	16.2	134	4521
6^a	F	27	N370S/RecNciI	C/C	N	10	17	SRT	5	1.6	11.6	157	6314
7	F	28	N370S/L461P + IVS10 + 1G > T	C/C	N	4	24	ERT	1	0.7	12.9	122	3665
8	M	31	N370S/RecNciI	C/C	N	14	16	ERT	1	2.7	15.1	203	1463
9^a	F	32	N370S/L444P	C/C	N	11	21	ERT	0	0	13.6	202	2847
10	M	37	N370S/ L444P + E326K	C/T	N	27	6	ERT	1	0	16.0	179	629
11	F	38	N370S/RecNciI	C/C	N	35	3	ERT	0	0	13.4	235	983
12	F	39	N370S/ L444P + E326K	C/T	N	29	9	SRT	0	0	12.5	167	2242
13	M	41	N370S/L444P	C/T	Y	26	16	ERT	5	1.7	14.2	328	1854
14	M	45	N370S/L444P	C/T	N	37	6	ERT	3	0.5	15.0	205	306
15	F	49	E349K/S366 N	C/T	N	42	6	ERT	5	2.6	15.5	291	616
16	F	51	N370S/RecNciI	C/C	Y	34	17	ERT	11	2.9	14.2	434	1055
17	M	52	N370S/RecNciI	C/C	N	44	6	ERT	2	2.2	15.4	120	1451
18	M	57	N370S/RecNciI	C/C	N	50	7	ERT	3	0	16.4	170	1085
19	F	62	N370S/RecNciI	C/C	N	42	20	ERT	3	2.5	13.6	149	265
20	M	63	N370S/RecNciI	C/C	Y	49	11	ERT	9	7	15.3	222	440
21	M	64	N370S/N370S	C/C	N	54	9	ERT	2	1.1	13.3	143	1860
22	F	67	N370S/L444R	C/T	Y	60	7	ERT	4	2.6	14.4	268	240
23	F	67	N370S/RecNciI	C/C	N	57	6	ERT	4	1.9	14.0	161	223

3′-UTR SNP (rs708606) C is the wild form, SPX splenectomy, N no, Y yes, ERT enzyme replacement therapy, SRT substrate reduction therapy, SSI Zimran Severity Score Index (mild = 0–10; moderate = 11–19; severe ≥20), DS3 Disease Severity Score (mild = < 3.00; moderate = 3.00–5.99; marked = 6.00–19), Hb hemoglobin, Plat platelet count, ChT chitotriosidase activity (normal range: < 78.5 nmol/hr./mL). ^aPatients with reported family history of Parkinson’s disease

ISSN: 1750-1172