|
Family number (Sb/Cs)
|
G
|
Age at dg
|
Age at death (†)/age at last follow up
|
First visceral symptoms (age)
|
First euro-psychiatric symptoms (age)
|
Type of primary diagnostic method
|
Mutations in theNPC1gene predicted effect on protein
|
|---|
|
FM1 (Sb)
|
M
|
1y
|
? (†)/1y
|
NJa, Hp, HSm (1 m)
|
NR
|
HL, BMS
|
ND
|
|
M
|
4 m
|
4 m (†)
|
NJa, Hp, HSm (1†m)
|
NR
|
BMS, AT
|
ND
|
|
FM2 (Sb)
|
F
|
5y
|
? (†)/5y
|
NJa, HSm (1 m)
|
SRt (22 m)
|
BMS, F(C)
|
c.826T>C/c.3557G>A
|
|
p.Y276H/p.R1186H
|
|
M
|
4y
|
? (†)/4y
|
HSm (1 m)
|
SRt (4y)
|
F(C)
|
c.826T>C/c.3557G>A
|
|
p.Y276H/p.R1186H
|
|
FM3 (Sb)
|
M
|
4y
|
6y (†)
|
NJa (1 m)
|
A, GCt (4y)
|
BMS, MG
|
c.2196dupT/c.3557G>A
|
|
p.P733Sfs*9/p.R1186H
|
|
F
|
2y
|
6y
|
HSm (2y)
|
PMRt (18 m)
|
MG
|
c.2196dupT/c.3557G>A
|
|
p.P733Sfs*9/p.R1186H
|
|
FM4 (Sb)
|
M
|
DPM
|
11y (†)
|
NR
|
PMRt (3y)
|
AT
|
ND
|
|
M
|
DPM
|
9y (†)
|
NR
|
SRt, Epi (3y)
|
AT
|
ND
|
|
FM5 (Sb)
|
F
|
4y
|
? (†)/4y
|
HSm (4 m)
|
PMRg, A (4y)
|
HL
|
ND
|
|
F
|
27y
|
27 (†)
|
Sm (7y)
|
PMRg (7y)
|
F/V, AT
|
c.352_353delAG/c.3019C>G
|
|
p.Q119Vfs*7/p.P1007A
|
|
FM6 (Sb)
|
F
|
14y
|
14 (†)
|
NR
|
Sp, Epi (7y)
|
AT
|
ND
|
|
M
|
9y
|
20y (†)
|
Sm (9y)
|
LDs, Epi (9y)
|
BMS, HL
|
ND
|
|
FM7 (Sb)
|
F
|
7y
|
19y (†)
|
NR
|
PMRg, A (7y)
|
BMS, HL, F/C
|
c.2196dupT/c.2861C>T
|
|
p.P733Sfs*9/p.S954L
|
|
F
|
9y
|
33y (†)
|
HSm (5y)
|
A, Ds (9y)
|
BMS
|
c.2196dupT/c.2861C>T
|
|
p.P733Sfs*9/p.S954L
|
|
FM8 (Sb)
|
F
|
21y
|
38y
|
Sm (21y)
|
A, Ds (13y)
|
F/C
|
c.1210delC/c.1990G>A
|
|
p.R404Gfs*45/p.V664M
|
|
M
|
23y
|
31y (†)
|
Sm (23y)
|
CDc, MDs (18y)
|
BMS, F/C
|
c.1210delC/c.1990G>A
|
|
p.R404Gfs*45/p.V664M
|
|
FM9 (Sb)
|
F
|
27
|
35y (†)
|
Sm (27y)
|
DP (23y)
|
BMS, F/V, MG
|
c.2780C>T/c.2780C>T
|
|
p.A927V/p.A927V
|
|
F
|
20
|
27y
|
Sm (20y)
|
SCH (16)
|
F/V, MG
|
c.2780C>T/c.2780C>T
|
|
p.A927V/p.A927V
|
|
M
|
14
|
23y
|
Sm (14y)
|
LDs, Ds, (14)
|
F/V, MG
|
c.2780C>T/c.2780C>T
|
|
p.A927V/p.A927V
|
|
FM10 (Cs)
|
M
|
5y
|
21y
|
Sm (4y)
|
Ds, (14y)
|
F/I
|
c.2861C>T/c.3557G>A
|
|
p.S954L/p.R1186H
|
|
F
|
18y
|
23y
|
Sm (18y)
|
Ds, A, (13y)
|
BMS, MG
|
c.2861C>T/c.3557G>A
|
|
p.S954L/p.R1186H
|
-
A ataxia, AT autopsy, BMS bone marrow smear, CDc cognitive decline, Cs cousins, dg diagnosis, DP depression, DPM delayed post-mortem examination (in preserved tissues), Ds dysarthria, Epi epilepsia, F female, F/C classical biochemical subtype using filipin staining + LDL-cholesterol assay, FM family, F/I intermediate biochemical subtype using filipin staining + LDL-cholesterol assay, F/V variant biochemical subtype using filipin staining + LDL-cholesterol assay, G gender, GCt gelastic cataplexy, HL histology of liver, Hp hepatopathy, HSm hepatosplenomegaly, LDs learning disability, m months, MDs memory disorder, MG molecular genetics, ND not done, NJa neonatal jaundice, NR not reported, PMRg psychomotoric regression, PMRt psychomotoric retardation, Sb siblings, SCH schizophrenia, Sm splenomegaly, Sp spasticity, y years, *translatin stop codon in 1-leter amino acid code. Note: novel mutations are highlighted in bold font.
