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 |