Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

Table 1 Summary of clinical, biochemical and genetic patient data (n = 14)

Patient	Sex	Age at diagnosis	Age at start of treatment	New symptoms under therapy	Age at last visit	Subtype	Chitotriosidase	Filipin staining	Cholesterol esterification	Bone marrow	Genetics ( *NPC1* )
1a*	m	30	31	-	33	Juvenile	Normal	Clearly abnormal	na	Sea blue histiocytes, foam cells	p.Arg978Cys/delX1-X6
1b*	f	27	28	Mild Polyneuropathy	30	Adult	9.9 mU/ml (0.0–4.6)	Clearly abnormal	na	na	p.Arg978Cys/delX1-X6
1c*	f	22	22	-	24	Adult	Normal	Clearly abnormal	na	na	p.Arg978Cys/delX1-X6
2a*	f	15	30 (− 32)	-	^†32	Juvenile	8.2 mU/ml (0.0–4.6)	Clearly abnormal	Abnormal	Sea blue histiocytes, foam cells	p.Pro474Leu/p.Ile1094Thr
2b*	m	19	29	-	35	Juvenile	Normal	Clearly abnormal	na	Sea blue histiocytes, foam cells	p.Pro474Leu/p.Ile1094Thr
3a	m	15	-	-	15	Juvenile	Normal	Variant	na	na	p.Ser940Leu/p.Pro1007Ala
3b	f	10	-	-	10	Juvenile	Normal	na	na	na	p.Ser940Leu/p.Pro1007Ala
4a*	m	18	29	Dysphagia	29	Juvenile	11.3 mU/ml (0.3–3.7)	Clearly abnormal	na	Sea blue histiocytes, foam cells	p.Ile1061Thr/p.Ile1061Thr
4b*	m	16	27	Dysphagia, dystonia, seizures	27	Juvenile	4.4 mU/ml (0.3–3.7)	Clearly abnormal	na	Sea blue histiocytes, foam cells	p.Ile1061Thr/p.Ile1061Thr
5	m	2	3	VSGP	5	Late-infantile	24.5 mU/ml (0.0–1.03)	Variant	na	Sea blue histiocytes, foam cells	p.Ile1067Thr/p.Asp948Asn
6	m	7.5	-	-	^†7.5	Late-infantile	na	Clearly abnormal	na	Foam cells	c.1554-1009G > A (intron 9)/p.Tyr1081*
7	f	50	50	Dysphagia	51	Adult	Normal	Clearly abnormal	na	Sea blue histiocytes, foam cells	p.Asp898Asn/ p.Pro1245Cysfs*12
8	f	23	24	-	25	Adult	Normal	Clearly abnormal	na	na	na
9	f	15	-	-	^†25	Juvenile	na	Clearly abnormal	Abnormal	na	na

na: not available; ^†deceased, *Patients included in [23]: 1a > 044, 1b > 042, 1c > 043, 2a > 020, 2b > 021, 4a > 018, 4b > 019.

ISSN: 1750-1172