Table 2.
Distribution of clinical forms of NP-C disease in large cohorts
| Neonatal systemic fatal (%) | Early infantile neurological onset (%) | Late infantile neurological onset (%) | Juvenile neurological onset (%) | Adolescent/adult neurological onset (%) | Total no. | |
|---|---|---|---|---|---|---|
| Early studies | ||||||
| France+ European countries [70] | 12 | 30 | 23 | 30 | 5 | 125 |
| Spain [71–73] | 7 | 37 | 21 | 25 | 11 | 57 |
| Italy [74, 75] | 7 | 26 | 32 | 23 | 12 | 43 |
| France [11] | 9 | 26 | 22 | 26 | 16 | 107 |
| Recent studies | ||||||
| Germany [22] | 3 | 3 | 35 | 54 | 5 | 37 |
| Czech Republic [12] | 6 | 17 | 24 | 37 | 17 | 54 |
| UK [13] | 5 | 6 | 39 | 32 | 19 | 132 |
| European countries [20] | – | 11 | 31 | 31 | 27 | 145 |