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Table 1 Demographic and disease characteristics of patients with NP-C

From: Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer’s dementia

Demographics

Clinical data

Biochemical variables

Patient No.

Age (yrs)

Gender

Age at onset (yrs)

Symptom duration (yrs)

Duration of miglustat therapy (mo)

Primary clinical symptomsa

NP-C severity scoreb

Plasma ChT (nmol/h/mL)

Plasma C-triol (ng/mL)

CSF Aβ (pg/mL)

CSF tau (pg/mL)

1

35

F

28

7

10

Ataxiaa, dysarthria, mild VSGP

6

56

112

ND

ND

2

31

M

17

14

26

Dysarthriaa, psychomotor agitation, dysphagia, ataxia, VSGP

14

321

267

1337

807

3

45

F

34

11

18

Cataplexya, ataxia, dysarthria, dystonia, mild VSGP

11

321

108

789

151

4

27

F

17

6

37

Cataplexya, mild ataxia and dysarthria

5

97

91

ND

ND

5

54

F

42

12

28

Ataxiaa, dysarthria, VSGP, mild dysphagia

9

367

302

ND

ND

6

33

F

25

8

3

Dysarthriaa, mild VSGP, mild ataxia

7

77

164

1282

313

7

23

F

14

9

22

Ataxiaa, dystonia, mild dysarthria, VSGP, cataplexy, mild dysphagia

10

128

188

1267

354

  1. aSymptoms present at initial presentation; bNP-C severity measured using the NP-C disability scale of Pineda et al [27], where escores ranged from 0 (best) to 24 (worst). Aβ, amyloid-beta protein; CSF cerebrospinal fluid, ChT chitotriosidase, C-triol cholestane-3β,5α,6β-triol, ND not determined. Analyte cut-off values: ChT < 100 nmol/h/mL; C-triol < 50 ng/mL; Aβ < 500 pg/mL; tau > 500 pg/mL