Table 5 NPC patients with adolescent/adult (A) 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 | 1980 | 46y (†) | NR | Tr, CDc, Dk (26y) | ND | ND | Y (AT) | ND |
46 | ||||||||||
2 | M | B of 10/T4 | 2000 | 31y (†) | Sm (22y) | CDc, MDs (18y) | Y | Y (F/C) | ND | c.1210delC/c.1990G>A |
23 | p.R404Gfs*45/p.V664M | |||||||||
3 | M | 0 | 2001 | 34y (†) | Sm (31y) | SCH (16y) | Y | ND | Y (AT) | c.2712delG/c.2861C>T |
31 | p.Q905Rfs*30/p.S954L | |||||||||
4 | F | 0 | 2004 | 54y (†) | Sm (54y) | NR | ND | ND | Y (AT) | c.1997G>A/c.2882A>G |
54 | p.S666N/p.N961S†| |||||||||
5 | F | S of 6/T5 | 2005 | 35y (†) | Sm (27y) | DP (23y) | Y | Y (F/V) | ND | c.2780C>T/c.2780C>T |
| Â | Â | & 18/T4 | 27 | Â | Â | Â | Â | Â | Â | p.A927V/p.A927V |
6 | F | S of 5/T5 | 2005 | 27y | Sm (20y) | SCH (16y) | ND | Y (F/V) | ND | c.2780C>T/c.2780C>T |
| Â | Â | & 18/T4 | 20 | Â | Â | Â | Â | Â | Â | p.A927V/p.A927V |
7 | F | 0 | 2007 | 70y | Sm (64y) | A, Ds, Dph (57y) | Y | ND | Y | c.2974G>C/c.3182 T>C |
64 | p.G992R/p.I1061T | |||||||||
8 | F | 0 | 2010 | 32y | Sm (25y) | A, Dk (16y) | Y | ND | ND | c.1028G>A/c.2198C>G |
28 | p.G343E / p.P733R | |||||||||
9 | F | 0 | 2012 | 26y | Sm (24y) | LDs (16y) | Y | ND | ND | c.3019C>G/ c.3592-7_3592-3delCTTTT |
24 | ||||||||||
p.P1007A/splice |