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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