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) |