Skip to main content

Table 5 NPC patients with adolescent/adult (A) form of disease

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

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
   & 18/T4 27        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
   & 18/T4 20        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
  1. A ataxia, AT autopsy, B brother, BMS bone marrow smear, CDc cognitive decline, CE non-LDL-cholesterol esterification test, CEL LDL-cholesterol esterification test, Cs cousin, dg diagnosis, Dk dyskinesia, DP depression, Dph dysphagia, Ds dysarthria, F female, F/C classical biochemical subtype using filipin + CEL, F/V variant biochemical subtype using filipin + CEL, G gender, LDs learning disability, M male, MDs memory disorder, ND not done, NR not reported, P order of patient at the age-at-onset category, S sister, Sb sibling, SCH schizophrenia, Sm splenomegaly, T table, Tr tremor, Y yes, y years, † patient deceased,patient described previously[34]; *translation stop codon in 1-letter amino acid code. Note: novel mutations are highlighted in bold font, and italics indicate decisive diagnostic method or methods (if they were performed simultaneously or in quick succession).