Table 4 NPC patients with juvenile (J) form of disease
P | G | Sb/Cs | Year of dg | Age at death (†)/age at last follow up | First visceral symptoms (age) | First neuro-psychiatric symptoms (age) | BMS (Y/ND) | Filipin and CEL or CE (Y/ND) | Histology and AT (Y/ND) | Mutations (NPC1)predicted effect on protein |
|---|---|---|---|---|---|---|---|---|---|---|
Age at dg | ||||||||||
1 | F | 0 | 1975 | 29y (†) | NR | A, Ds (13y) | ND | ND | Y(AT) | ND |
29y | ||||||||||
2 | M | 0 | 1976 | 11y (†) | NJa, HSm (1 m) | PMRg (8y) | ND | ND | Y(AT) | ND |
11y | ||||||||||
3 | F | S of 4/T4 | 1980 | 14y (†) | NR | Sp, Epi (7y) | ND | ND | Y(AT) | ND |
14y | ||||||||||
4 | M | B of 3/T4 | 1981 | 20y (†) | Sm (9y) | LDs, Epi (9y) | Y | ND | Y | ND |
9y | ||||||||||
5 | F | 0 | 1981 | 24y (†) | HSm (8y) | LDs, Tr (8y) | Y | ND | Y | ND |
10y | ||||||||||
6 | F | S of 7/T4 | 1989 | 19y (†) | NR | A, PMRg (7y) | Y | Y(F/C) | Y | c.2196dupT/c.2861C>T |
7y | p.P733Sfs*9/p.S954L | |||||||||
7 | F | S of 6/T4 | 1989 | 33y (†) | HSm (5y) | A, Ds (9y) | Y | ND | ND | c.2196dupT/c.2861C>T |
9y | p.P733Sfs*9/p.S954L | |||||||||
8 | F | 0 | 1997 | 24y (†) | NR | Sp, Ds (14y) | ND | ND | Y(AT) | ND |
24y | ||||||||||
9 | F | 0 | 1997 | 18y | HSm (9 m) | A, Ds, BDs (7y) | Y | Y(F/C) | ND | c.1421C>T/c.2072C>T |
1y | p.P474L/p.P691L | |||||||||
10 | F | S of 2/T5 | 1997 | 38y | Sm (21y) | A, Ds (13y) | ND | Y(F/C) | ND | c.1210delC/c.1990G>A |
21y | p.R404Gfs*45/p.V664M | |||||||||
11 | M | 0 | 1998 | 28y | NR | Epi, CDc (13y) | Y | Y(F/V) | ND | c.1232G>C/c.3019C>G |
13y | p.R411P/p.P1007A | |||||||||
12 | M | Cs of 20/T4 | 1998 | 21y | Sm (4y) | Ds (14y) | ND | Y(F/I) | ND | c.2861C>T/c.3557C>A |
5y | p.S954L/p.R1186H | |||||||||
13 | M | 0 | 1999 | ?(†)/17y | Sm (17y) | LDs (7y) | Y | Y(F/I) | ND | c.2849T>G/c.3019C>G |
17y | p.V950G/p.P1007A | |||||||||
14 | F | S of 4/T3 | 2000 | 27y (†) | Sm (7y) | PMRg (7y) | ND | Y(F/V) | Y(AT) | c.352_353delAG/c.3019C>G |
27y | p.Q119Vfs*7/p.P1007A | |||||||||
15 | F | 0 | 2000 | 27y | Sm (13y) | LDs, A (9y) | Y | Y(F/I) | ND | c.1812dupT/c.2861C>T |
13y | p.A605Cfs*1/p.S954L | |||||||||
16 | F | 0 | 2002 | 25y (†) | NR | LDs, A, Dk (13y) | ND | ND | Y(AT) | c.1028G>A/c.3019C>G |
25y | p.G343E/p.P1007A | |||||||||
17 | M | 0 | 2003 | 35y | Sm (23y) | A, Ds (14y) | Y | Y(F/C) | ND | c.2861C>T/c.3557G>A |
24y | p.S954L/p.R1186H | |||||||||
18 | M | B of 5/T5 &6/T5 | 2005 | 23y | Sm (14y) | LDs,Ds (14y) | ND | Y(F/V) | ND | c.2780C>T/c.2780C>T |
14y | p.A927V/p.A927V | |||||||||
19 | M | 0 | 2006 | 27y | Sm (19y) | Ds, Epi (13y) | Y | ND | ND | c.1232G>C /c.2861C>T |
19y | p.R411P /p.S954L | |||||||||
20 | F | Cs of 12/T4 | 2007 | 23y | Sm (18y) | Ds, A (13y) | Y | ND | ND | c.2861C>T/c.3557G>A |
18y | p.S954L/p.R1186H |