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Table 3 Patients with early-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

7/F

–

2000

4 m

3y 4 mb

PJ LD

Yes

C 2y 11 m

–

<18 m

<2y

13 m

–

<2y

No

–

–

c.3578_3591 + 9del/c.3578_3591 + 9del

8/F

–

2006

19 m

3y 9 mb

PJ

Yes

No

No

Yes

Yes

19 m

–

Yes

No

–

–

–

9/F

–

2005

3 m

4y 1 mb

PJ LD, LTx

Yes

–

–

Yes

Yes

Yes

–

Yes

No

–

–

c.1526A > C(p.Tyr509Ser/?

10/F

–

2003

6 m

4y 5 mb

PJ LD

Yes

E 3y 5 m

<18 m

Yes

Yes

3y

–

No speech

No

–

–

c.2801G > A(p.Arg934Gln)/c.2978del(p.Gly993Glu fsX4)

11/M

d

1990

PM

7y 8 mb

No

No

C 2y E 4y

Yes

<2y

<2y

5y

–

Yes

No

–

–

c.2819C > T(p.Ser940Leu/?a

12/F

e twin

1998

11 m

8y 5 mb

PJ

Yes

C 5y E 5y 10 m

3y

Yes

Never mobile

No

–

<3y

Yes

7y

1w

c.3107C > T(p.Thr1036Met/c.3557G > A(p.Arg 1186His)

13/F

e twin

1998

11 m

7y 1 mb

PJ

Yes

C 5y E 5y 10 m

3y

Yes

Never mobile

No

–

<3y

Yes

7y

1w

c.3107C > T(p.Thr1036Met/c.3557G > A(p.Arg 1186His)

14/F

–

1995

4y 5 m

6y 5 mb

No

No

C 4y E 5y

4y

1y 5 m

4y

5y

–

Yes

–

–

–

c.3503G > A(p.Cys1168Tyr)/c.3503G > A(p.Cys1168Tyr)

  1. aSecond mutant allele not found after full genome sequencing; bPatient died; ‘–’, no data/not known; C cataplexy, E epilepsy, FA foetal ascites, HS/S hepatosplenomegaly/splenomegaly, LD liver disease, LTx liver transplant, m months, PJ prolonged jaundice, PM post mortem, y years, w weeks