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Table 4 Patients with late-infantile 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)/deathb

Neonatal LD

HS/S

Seizures/cataplexy

VSGP

Dev. delay

Ataxia

Swallowing problems

Psychiatric disturbance

Slurred speech

Miglustat?

Age at 1st miglustat start

Miglustat duration

Genetic mutations

15/M

f

2000

2y

5 y 4 mb

–

<1y 8 m

E <4y 11 m

–

<4y 6 m

<4y 6 m

<4y 6 m

–

<3y

No

–

–

c.3020C > T(p.Pro1007Leu)/c.3020C > T(p.Pro1007Leu)

16/F

–

2004

11 m

7y 2 m

PJ

S

No

5y

5y

4y

No

–

Mild <4y

Yes

6y

1y

–

17a/M

–

2005

1y 2 m

6y 7 m

HS

–

No

<6y

<5y

No

No

–

<6y

Yes

5y

1y

c.1526A > C(p.Tyr509Ser)/c.688_693del(p.Ser230_Val231del

18/F

–

2002

6 m

6y 4 mb

PJ

S

C 3y

Yes

3y

Yes

3y

–

3y

No

–

–

c.2008_2011del(p.Cys670ProfsX17/?d

19a/M

–

1990

15y

21y 2 m

–

–

E 15y

Yes

5y

Yes

–

–

–

Yes

16y

5y

c.2292G > A(p.Gly764Ala)/?

20/F

–

1987

6y

13y 6 mb

No

4y

–

7y

5y 5 m

7y

4y

–

Yes

No

–

–

c.2324A > C(p.Gln775Pro)/c.2956G > A(p.Gly986Ser)

21/M

g

2003

2y 11 m

7yb

PJ

HS

C 4y

2y 11 m

3y

<4y

Yes

–

<4y

No

–

–

c.2464_2465insT(p.Lys822IlefsX48)/c.2201G > T(p.ser734Ile)

22a/F

g

2005

4y

6y 10 m

Slight jaundice

No

No

<6y

<5y

<6y

No

–

<6y

Yes

3y

3y

c.2464_2465insT(p.Lys822IlefsX48)/c.2201G > T(p.ser734Ile)

23/F

d

1997

3y 9 m

12y 9 mb

No

No

C 6y

6y

6y 5 m

4y 7 m

7y

–

Yes

Yes

–

–

c.2819C > T(P.Ser940Leu)/?

24a/F

–

2001

7y

10y 10 m

No

No

E 9y C 8y

9y

<5y

9y

6y

–

<6y

Yes

8y

2y

c.3019C > g(p.Pro1007Ala)/?

25a/F

c/twin

2006

At birth

5y 6 m

PJ LD

HS

No

4y

<4y

<4y

No

–

4y

Yes

4y

1y

c.3020C > T(p.Pro1007Leu)/c.3020C > T(p.Pro1007Leu)

26a/F

c/twin

2006

At birth

5y 6 m

PJ LD

HS

No

4y

<4y

<4y

No

–

4y

Yes

4y

1y

c.3020C > T(p.Pro1007Leu)/c.3020C > T(p.Pro1007Leu)

27/F

f

2008

At birth

3y

Yes

Yes

No

No

<3y

Mild

No

–

No

Yes

0.5y

2.5y

c.3020C > T(p.Pro1007Leu)/c.3020C > T(p.Pro1007Leu)

28/M

–

1994

9 m

9y 3 mb

PJ LD

HS

C 4y E 7y

4y

1y

<5y

5y

–

5y

No

–

–

c.3182 T > C(p.Ile1061Thr)/?d

29/F

–

1990

9 m

9y 5 mb

PJ LD

No

Yes

<6y

<6y

6y 5 m

–

–

–

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

30/F

–

1975

8y

28yb

PJ LD

HS

E 17y

8y

13y

5y

Yes

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

31/F

–

2003

3 m

8y 6 m

PJ LD

At birth

E 8y

4y

<4y

<4y

<7y

–

5y

Yes

–

–

c.3182 T > C(p.Ile1061Thr)/?d

32//M

h

1989

2y

11y 2 mb

PJ LD

No

E 6y 5 m

Yes

4y

Yes

Yes

–

–

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

33/M

h

1988

1y

8y 5 mb

PJ LD

No

C 6y E 6y

No

<5y

–

8y

–

–

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

34/F

–

1990

4y 9 m

14yb

No

4y

C 7y E 8y

7y

6y

4y

8y

–

7y

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

35/F

–

1989

7y

16yb

No

At birth

C 8y E 10y

5y

4y

4y 5 m

9y

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

36/M

–

1987

8 m

12y 1 mb

PJ LD

At birth

C 5y 5 m E 7y 8 m

5y

5y

5y

9y

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

37/M

–

1991

4y 3 m

9yb

PJ LD

HS 3y

C 5y

4y

4y 6 m

2y

5y

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

38/M

–

–

16y

22y 11 mb

PJ

No

No

16y

8y

4y

17y

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/?

39/M

–

2001

8 m

10y 6 m

PJ

HS

No

Yes

4y 6 m

Yes

No

–

No

Yes

7y

3y

c.3182 T > C(p.Ile1061Thr)/del10bp962

40/M

–

1995

10 m

10yb

PJ LD

S

C 4y 9 m

4y

>4y

Yes

Yes

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/c.1142G > A(p.Trp381X)

41/F

–

1996

12 m

11y 9 mb

No

HS 9 m

C 5y 6 m

5y

5y

5y 6 m

No

–

11y

Yes

7y

4y

c.3182 T > C(p.Ile1061Thr)/c.2656G > C(p.Gly886Arg)

42/F

–

1983

9y 5 m

25y 7 mb

No

S 9y 6 m

E 5y

Yes

Yes

12y

Yes

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/c.3019C > G(p.Pro1007Ala)

43/F

–

1993

6y

9y 6 mb

PJ

5y

C 5y E6y

5y

5y

5y

6y

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/c.3107C > T(p.Thr1036Met)

44a/M

–

2007

4 m

4y 1 m

NC

Yes

No

No

<3y

<3y

No

–

<3y

Yes

2y

2y

c.3182 T > C(p.Ile1061Thr)/c.3107C > T(p.Thr1036Met)

45a/M

–

1998

4 m

13y 9 m

PJ

Yes

C 8y

5y

9y

No

No

–

No

Yes

5y

8y

c.3182 T > C(p.Ile1061Thr)/c.3175C > T(p.Arg1059X)

46/F

–

1996

7y 8 m

15y 6 mb

No

No

C 8y

7y 8 m

7y 8 m

5y

8y 5 m

–

Yes

No

–

–

c.3182 T > C(p.Ile1061Thr)/c.3182 T > C(p.Ile1061Thr)

47a/M

–

2006

At birth

5y

PJ LD

Yes

C <4y

No

3y

Yes

<5y

–

<4y

Yes

4y

1y

c.3182 T > C(p.Ile1061Thr)/c.3422 T > G(p.Val1141Gly)

48/F

–

1982

3y

29y 4 m

PJ

HS at birth

No

3y

3y

5y

18y

–

Yes

Yes

–

–

c.3182 T > C(p.Ile1061Thr)/c.3467A > G(p.Asn1156Ser)

49a/F

–

2001

12 m

10y 7 mb

No

S

C 9y

4y

4y

4y

7y

–

6y

No

–

–

c.3182 T > C(p.Ile1061Thr)/c.3591 + 4delA

50a/M

–

2004

1y 11 m

7y 5 mb

No

6 m

C 4y

4y

3y 5 m

3y

4y 5 m

–

Yes

Yes

5y

2y

c.3259 T > C(p.Phe1087Leu)/c.2516 T > G(p.Ile839Arg)

51/F

i

1984

8y 6 m

27y 5 m

No

2y

C 5y

8y

13y

5y

13y

–

11y

No

–

–

c.3467A > G(p.Asn1156Ser)/?d

52/F

i

1978

14y 5 m

33y 5 mb

No

No

E 13y

14y

5y

13y

13y

–

12y

No

–

–

c.3467A > G(p.Asn1156Ser)/?d

53/F

j

1995

8y 4 m

16y 11 m

No

No

E 7y 5 m C 8y

6y 9 m

3y 5 m

4y

8y 6 m

–

Yes

No

–

–

c.3591 + 4delA/?d

54a/M

–

2006

At birth

5y 5 m

PJ LD

Yes

No

No

Yes

No

Yes

–

Yes

No

–

–

c.58G > T(p.Glu20X)/c.58G > T(p.Glu20X) [NPC2]

55/M

k

2000

–

10y 5 mb

No

No

C 6y

5y

5y

5y

5y

–

Yes

No

–

–

–

56/M

–

2005

3y 10 m

–

Yes

–

–

–

4y

–

–

–

4y

No

–

–

–

57/F

l

–

2y

6yb

No

HS 6 m

No

3y

2y 5 m

2y 5 m

5y

–

No

No

–

–

–

58/M

–

–

9y 5 m

15yb

No

No

C + E 5y

6y

6y

4y

10y

–

Yes

No

–

–

–

59/F

–

1987

8y

17y 6 mb

No

4y

C 5y E 10y

7y

5y

6y

11y

–

Yes

No

–

–

–

60/M

b

1983

8y

16yb

PJ

No

E 16y

Yes

8y

5y

12y

–

Yes

No

–

–

c.3501C > G(p.Phe1167Leu)/c.3501C > G(p.Phe1167Leu)

61/M

l

1990

7y 1 m

17y 5 mb

No

S 2y 6 m

C 10y

7y 1 m

4y 5 m

5y 5 m

10y

–

Yes

No

–

–

–

62/F

–

1993

5y

9y 5 mb

PJ

HS 5y 5 m

C 5y

No

18 m

4y

No

–

Yes

No

–

–

–

63/M

k

1998

–

–

–

–

–

Yes

Yes

Yes

Yes

–

Yes

No

–

–

–

64/F

–

1982

29y

29y 6 m

No

No

No

29y

Yes

Yes

20y

–

24y

No

–

–

c.3022A > C(p.Asn108His)/c.182 T > C(p.Ile 1061Thr)

65/F

–

2008

2y

3y 9 m

Yes

HS

No

No

Yes

No

No

–

No

No

–

–

[NPC2]c

  1. aPatients included in previously reported NPC Registry baseline characteristics study [19]; bpatient died; cmutation found but information not accessible during observation period; dsecond mutant allele not found after full genome sequencing. ‘–’, 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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BMC Neurology

ISSN: 1471-2377

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