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Table 1 Comparisons of different methods used in NPC disease diagnosis

From: Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O

Patients

GST-PFO cellular ELISA (arbitrary units)

Filipin staining

Total cholesterol content (μg/ml)

Chitotriosidase activity (nmol/ml/h)

Comments

1

0.205 ± 0.031

+ + +

115.72 ± 6.06

1515 -1810

Typical symptoms

2

0.192 ± 0.042

+ + +

ND

465 - 783

Typical symptoms

3

0.181 ± 0.024

+ + +

87.21 ± 14.80

212

Typical symptoms

4

0.166 ± 0.036

++

53.86 ± 5.41

ND

Qualified initially as NPC, not confirmed genetically

5

0.130 ± 0.018

+

58.08 ± 11.91

286 - 323

Moderate symptoms - progressing with age, genetically confirmed

Healthy

0.085 ± 0.004

14.63 ± 1.12

120 - 150

N/A

  1. GST-PFO binding, filipin labeling, and total cholesterol content was estimated in cultured skin fibroblasts, while the chitotriosidase activity in serum of NPC patients and a healthy control. Results of two or three assays run in triplicates are shown as mean ± SEM when indicated.