Table 3 NPC patients with late-infantile (LI) 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 | M | B of 2/T3 | 1975 | 11y (†) | NR | PMRt (3 y) | ND | ND | Y (AT) | ND |
DPM | ||||||||||
2 | M | B of 1/T3 | 1975 | 9y (†) | NR | SRt, Epi (3 y) | ND | ND | Y (AT) | ND |
DPM | ||||||||||
3 | M | 0 | 1975 | 8y (†) | NR | PMRg, Epi (3 y) | ND | ND | Y (AT) | ND |
DPM | ||||||||||
4 | F | S of 14/T4 | 1975 | ? (†)/4y | HSm (4 m) | PMRg, A (4y) | ND | ND | Y | ND |
4y | ||||||||||
5 | M | 0 | 1981 | 5y (†) | HSm (1 m) | PMRt (3y) | Y | ND | Y (AT) | c.1421C>T/c.3557G>A††|
3y | p.P474L/p.R1186H | |||||||||
6 | F | 0 | 1988 | 19y (†) | HSm (2y) | PMRg (6y) | Y | Y (CE) | Y | c.2635_2636dupAT/ c.3019C>G |
6y | ||||||||||
p.Q881Vfs*56/p.P1007A | ||||||||||
7 | F | 0 | 1990 | 11y (†) | HSm (4y) | A, Ds, GCt (4 y) | Y | Y (F/V) | ND | c.1029dupG/c.3019C>G |
8y | p.S344Vfs*35/p.P1007A | |||||||||
8 | F | 0 | 1993 | 12 (†) y | NJa (1 m) | A, Ds, Epi (4y) | Y | Y (F/C) | ND | c.3182T>C/NDT |
10y | p.I1061T/NDT | |||||||||
9 | M | 0 | 1995 | 22y (†) | HSm (5y) | PMRt (5y) | Y | Y (F/I) | ND | c.3019C>G/c.3557G>A |
5y | p.P1007A/p.R1186H | |||||||||
10 | M | B of 10/T2 | 1998 | ?(†) /4y | HSm (1 m) | SRt (4 y) | ND | Y (F/C) | ND | c.826T>C/c.3557G>A |
4y | p.Y276H/p.R1186H | |||||||||
11 | M | 0 | 2004 | 10y | HSm (7 m) | A, GCt (4y) | ND | Y (F/C) | ND | c.3182T>C/c.3557G>A |
4y | p.I1061T/p.R1186H | |||||||||
12 | M | 0 | 2008 | 12 (†) | Sm (6y) | A, PMRg (3y) | Y | ND | ND | c.3557G>A/c.3557G>A |
6y | p.R1186H/p.R1186H | |||||||||
13 | M | B of 12/T2 | 2009 | 6y (†) | NJa (1 m) | A, GCt (4y) | Y | ND | ND | c.2196dupT /c.3557G>A |
4y | p.P733Sfs*9 /p.R1186H |