Table 1 Patient characteristics
From: Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C
Patient | Sex | Mutation | Age at neurological symptoms (yrs) | Age at diagnosis (yrs) | Age at examination (yrs) | Miglustat |
|---|---|---|---|---|---|---|
1 | Female | Compound heterozygous mutations c.1211G > A (p. Arg404Gln) and c.2861C > T (p. Ser954Leu) | 18 | 23 | 35 | No |
2 | Female | Homozygous mutations c.3182 T > C (p.IIe1061Thr) | 8 | 21 | 25 | Yes |
3 | Male | Compound heterozygous mutations c.2474A > G (p.Tyr825Cys) and c.3019C > G (p.Pro1007Ala) | 52 | 59 | 61 | Yes |
4 | Female | Homozygous mutations p.Gly640Arg | 14 | 18 | 20 | Yes |
5 | Male | Compound heterozygous mutations c.346C > T (p.R116X) and c.247A > G (p. Y825C) | 14 | 17 | 19 | No |
6 | Male | Compound heterozygous mutations c.1918G > A (p.Gly640Arg) and c.3451G > A (p.Ala1151Thr) | 6 | 14 | 19 | Yes |
7 | Male | Compound heterozygous mutations c.3203C > T (p.Thr1068IIe) and c.3614C > A (p.Thr1205Lys) | 40 | 52 | 58 | Yes |
8 | Female | Homozygous mutations c.3182 T > C (p.IIe1061Thr) | 11 | 6 | 26 | No |