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Table 7 Summary of data in related patients in all age-at-onset groups

From: Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

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
  1. 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.