Table 2 NPC patients with neonatal/early-infantile (N/EI) 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/NPC2†)predicted effect on protein |
|---|---|---|---|---|---|---|---|---|---|---|
Age at dg. | ||||||||||
Neonatal rapidly fatal form | ||||||||||
1 | M | B of 2/T2 | 1982 | ?(†)/1 m | NJa, Hp, HSm (1 m) | NR | Y | ND | Y | ND |
<1y | ||||||||||
2 | M | B of 1/T2 | 1984 | 4 m (†) | NJa, Hp, HSm (1 m) | NR | Y | ND | Y (AT) | ND |
<1y | ||||||||||
3 | M | 0 | 1989 | 2 m (†) | NJa, Hp, HSm (1 m) | NR | ND | ND | Y (AT) | c.1261C>T/c.3614C>G††|
<1y | p.Q421*/p.T1205R | |||||||||
Early infantile form | ||||||||||
4 | F | 0 | 1976 | 5y (†) | HSm (1y) | PMRt (6 m) | ND | ND | Y (AT) | ND |
5y | ||||||||||
5 | M | 0 | 1981 | 5y (†) | NJa, HSm (1 m) | PMRt (1y) | Y | ND | Y (AT) | c.3557G>A/NDT |
5y | p.R1186H/NDT | |||||||||
6 | M | 0 | 1983 | 4y (†) | NJa, Hp, HSm (1 m) | PMRg (1y) | Y | ND | Y (AT) | ND |
1y | ||||||||||
7 | F | 0 | 1985 | 11y (†) | mild HSm (1 m) | MRt (1y) | Y | Y (CE) | Y | c.3182T>C/c.3591+1G>A |
1y | p.I1061T/splice | |||||||||
8 | F | 0 | 1990 | 4y (†) | HSm (20 m) | PMRg (20 m) | Y | Y (F/C) | ND | c.1812dupT/c.3558delC |
3y | p.A605Cfs*1/p.A1187Rfs*54 | |||||||||
9 | F | 0 | 1994 | 4y (†) | tachypnoea (1 m) | PMRt (1y) | Y | Y (F/C) | Y (AT) | NPC2: c.58G>T/c.58G>T |
1y | p.E20*/p.E20*†| |||||||||
10 | F | S of 10/T3 | 1997 | ?(†)/5y | NJa, HSm (1 m) | SRt (22 m) | Y | Y (F/C) | ND | c.826T>C/c.3557G>A |
5y | p.Y276H/p.R1186H | |||||||||
11 | F | 0 | 2001 | 6y (†) | Sm (2y) | PMRg, A (22 m) | Y | Y (F/C) | Y (AT) | c.3557G>A/c.3614C>A |
3y | p.R1186H/p.T1205K | |||||||||
12 | F | S of 13/T3 | 2010 | 6y | HSm (2y) | PMRt, A (18 m) | ND | ND | ND | c.2196dupT /c.3557G>A p.P733Sfs*9 /p.R1186H |
2y | ||||||||||