Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Imrie, Jackie; Heptinstall, Lesley; Knight, Stephen; Strong, Kate

doi:10.1186/s12883-015-0511-1

Table 6 Patients with adolescent-adult neurological onset

From: Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Patient number/Gender	Sibship	Date of birth	Age at diagnosis	Age at last FU (y, m)/death^c	Neonatal LD	HS/S	Seizures/cataplexy	VSGP	Dev. delay/cognitive problems	Ataxia	Swallowing problems	Psychiatric disturbance	Slurred speech	Miglustat?	Age at 1^st miglustat start	Miglustat duration	Genetic mutations
108^b/M	m	1976	23y	39y	PJ	No	No	17y	17y	25y	25y	No	Yes	Yes	32y	3y	c.3182 T > C(p.Ile1061Thr)/c.3019C > G(p.Pro1007Ala)
109/F	–	1975	18y	30y^c	No	No	E 18y 6 m	18y	15y	15y	24y	18y	Yes	No	–	–	c.3182 T > C(p.Ile1061Thr)/c.3019C > G(p.Pro1007Ala)
11/M	–	1978	20y	27y 3 m^c	No	No	No	<24y	<20y	No	23y	Yes	–	No	–	–	–
111/F	–	1975	25y 6 m	30y^c	No	No	C 25y	25y	16y	24y	23y	No	23y	No	–	–	–
112/M	n	1971	24y	40y 2 m	No	No	No	16y	24y	<24y	No	29y	32y	No	–	–	c.3182 T > C(p.Ile1061Thr)/?
113/M	p	1968	19y	43y 2 m^c	No	S 18y	E 17y	25y	18y	18y	25y	17y	18y	No	–	–	c.1843C > T(p.Arg615Cys)/c.3289-3291del(p.Asp1097del)
114^a/M	–	1987	22y	24y 11 m	No	No	No	22y	15y	15y	23y	No	18y	Yes	24y	0.5y	–
115/M	p	1969	18y	28y 8 m^c	No	S 1y 4 m	No	Yes	Yes	Yes	25y	28y	Yes	No	–	–	c.1843C > T(p.Arg615Cys)/c.3289-3291del(p.Asp1097del)
116/F	–	1963	38y	48y 6 m	No	No	No	<34y	37y	34y	39y	No	34y	Yes	39y^e	–	c.1133 T > C(p.Val378Ala)/c.422_423dup(p.Lys142X)
117^a/F	o	1978	25y	33y 11 m	No	No	No	No	25y	25y	32y	No	32y	Yes	29y	4y	c.1552C > T(p.Arg518Trp)/c.1552C > T(p.Arg518Trp)
118/M	–	–	27y	35y 4 m	–	Yes	Teens	No	Yes	Yes	Yes	20s	Yes	No	–	–	–
119^d/F	–	1966	32y	42y	No	No	No	Yes	<18y	29y	38y	No	38y	Yes	37y	8	c.3182 T > C(p.Ile1061Thr)/?
120/M	–	1972	29y	39y 10 m^c	–	–	–	–	Yes	–	–	–	–	No	–	–	–
121^a/M	–	1982	20y	29y 2 m	No	No	No	–	Yes	–	–	–	Yes	No	–	–	–
122/M	–	1964	31y	48y 6 m	No	Yes	No	Yes	46y	No	Yes	No	No	Yes	42y	5y	–
123^a/M	q	1967	40y	44y 5 m	–	No	Tremor	<40y	<40y	<40y	No	No	No	Yes	43y	1y	c.1408G > C(p .Ala 470 Pro/c.1816G > C (p.Glu608Gln)
124/F	–	1961	49y	50y 11 m	No	No	No	46y	42y	42y	49y	40y	42y	Yes	49y	1y	c.2000C > G(p.Ser667Trp)/?
125/F	r	1981	29y	30y 3 m^c	No	20y	No	20s	20s	20s	20s	Teens	20s	–	–	–	c.2764C > T(p.Gln922X)/c.1133 T > C(p.Val378Ala)
126/M	r	1985	25y	26y 8 m	No	No	No	25y	Mild 25y	No	No	No	No	Yes	25y	1y	c.2764C > T(p.Gln922X)/c.1133 T > C(p.Val378Ala)
127/M	–	1969	42y	42y 6 m	–	No	Tremor (20s)	<34y	<34y	Yes	40y	No	Yes	No	43y	–	c.2903A > G(p.Asn968Ser)/c.3182 T > C(p.Ile1061Thr)
128/F	–	1954	49y 6 m	57y 6 m	No	No	No	Yes	Yes	20s	No	No	20s	No	–	–	c.3182 T > C(p.Ile1061Thr)/?
129/F	–	–	PM	40y^c	–	–	–	–	–	–	–	–	–	–	–	–	c.3182 T > C(p.Ile1061Thr)/c.2861C > T(p.Ser954Leu)
130/M	q	–	40y	41y 9 m	–	40y	Tremor (35y)	Yes	No	Yes	40y	No	No	Yes	39y	–	c.1408G > C(p .Ala 470 Pro/c.1816G > C (p.Glu608Gln)
131/F	–	–	27y	27y 8 m	No	No	No	No	No	25y	No	27y	No	No	–	–	c.3022A > C p (Asn 1008 His)/c.3182 T > C p.(Ile 1061Thr)
132^a/M	s	1974	Early 30s	–	–	–	–	–	20y	–	–	–	–	Yes	–	–	c.2336del (p.Phe779SerfsX2)/c.2621A > T(p.Asp874Val)

^aPatients included in previously reported NPC Registry baseline characteristics study [11]; ^bPatients included in previously reported NPC Registry baseline and longitudinal data study [11, 12]; ^cpatient died; ^dpatient 119 F previously subject of case report by Lachmann et al. [10]; ^etreatment interrupted (first treatment start at 39 y, second treatment start at 46 y); ‘–’, no data/not known; C cataplexy, E epilepsy, FA foetal ascites, HM hepatomegaly, HS/S hepatosplenomegaly/splenomegaly, LD liver disease, LTx liver transplant, m months, NC neonatal cholestasis, PJ prolonged jaundice, PM post mortem, y years, w weeks

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