TABLE 1.
Detailed Demographic and Clinical Data for Niemann-Pick Disease Type C Patients (n = 39)
| Patient | Sex | Age | Total SS | Presenting Symptom | Age at First Symptom (mo) | Duration of Neurological Symptoms (yr) | Miglustat (+/−) | CoQ10 (+/−) |
|---|---|---|---|---|---|---|---|---|
| 1 | F | 21.2 | 35 | Splenomegaly | 18 | 12.2 | − | + |
| 2 | M | 7.7 | 5 | Splenomegaly | 6 | 2.7 | + | + |
| 3 | F | 13.1 | 33 | Splenomegaly | 8 | 11.1 | + | − |
| 4 | M | 5 | 11 | Jaundice, splenomegaly | 0 | 2.0 | − | − |
| 5 | M | 10 | 14 | Splenomegaly | 12 | 7.0 | − | + |
| 6 | M | 16.3 | 18 | Hepatosplenomegaly | 18 | 13.3 | − | + |
| 7 | F | 11.8 | 22 | Splenomegaly | 2 | 10.3 | − | + |
| 8 | F | 4 | 26 | Splenomegaly | 6 | 2.0 | + | + |
| 9 | M | 7.7 | 7 | Jaundice, Splenomegaly | 0.5 | 5.7 | + | + |
| 10 | M | 11.8 | 18 | Splenomegaly | 18 | 5.8 | + | + |
| 11 | M | 5.4 | 8 | Hepatosplenomegaly | 3 | 3.4 | + | + |
| 12 | F | 5.2 | 13 | Hepatosplenomegaly | 0 | 4.2 | + | + |
| 13 | M | 4.7 | 2 | Jaundice, splenomegaly | 0 | Unknown | + | + |
| 14 | M | 6.1 | 7 | Hepatosplenomegaly, jaundice | 0.75 | 4.1 | − | + |
| 15 | F | 3.8 | 3 | Splenomegaly | 24 | 1.7 | − | + |
| 16 | F | 21.5 | 35 | Vertical gaze palsy | 60 | 16.5 | − | + |
| 17 | F | 6.7 | 40 | Fine motor ataxia | 36 | 3.7 | − | + |
| 18 | F | 15.7 | 1 | Splenomegaly | 24 | Unknown | + | + |
| 19 | F | 6.8 | 27 | Fetal ascites | 0 | 5.3 | + | + |
| 20 | F | 12.6 | 24 | Developmental delay | 60 | 7.6 | − | + |
| 21 | F | 16.8 | 23 | Learning delay | Unknown | 8.8 | + | + |
| 22 | M | 8.4 | 46 | Clumsy | 18 | 6.9 | − | + |
| 23 | M | 1 | 1 | Jaundice | 0 | Unknown | + | + |
| 24 | M | 1.6 | 4 | Jaundice | 1.25 | Unknown | − | + |
| 25 | M | 17.2 | 10 | Unsteady gait | 144 | 5.2 | + | + |
| 26 | F | 8.1 | 8 | Splenomegaly | 15 | 1.1 | + | + |
| 27 | M | 20.3 | 14 | Cognitive decline, slurred speech | 156 | 7.3 | − | + |
| 28 | M | 6.6 | 13 | Fetal ascites | 0 | 3.1 | − | + |
| 29 | M | 4 | 2 | Jaundice, HSM | 0 | Unknown | − | − |
| 30 | F | 12.7 | 17 | Learning disability | 96 | 4.7 | + | − |
| 31 | F | 21 | 18 | Hepatosplenomegaly | 48 | 16.0 | − | − |
| 32 | F | 15.6 | 12 | Fetal ascites | 0 | Unknown | + | − |
| 33 | M | 17.2 | 19 | Nonverbal learning disability | 72 | 11.2 | − | − |
| 34 | F | 21.9 | 18 | Learning difficulty | 132 | 10.9 | − | − |
| 35 | F | 17.3 | 15 | Clumsy | 84 | 10.2 | + | − |
| 36 | F | 13.3 | 13 | Learning disability | 84 | 6.3 | + | − |
| 37 | M | 15.2 | 33 | Seizures | 72 | 9.2 | + | − |
| 38 | F | 11.8 | 16 | Hepatosplenomegaly | 7 | 8.7 | + | − |
| 39 | M | 3.8 | 2 | Splenomegaly | 6 | 1.7 | + | − |
Abbreviations:
F = Female
HSM = hepatosplenomegaly
M = Male
SS = National Institutes of Health Niemann-Pick disease type C neurological severity score
Duration of neurological symptoms is “unknown” when presenting symptom reported was not neurological, and onset of neurological symptom was not reported.