Table 1.
Summary of patient demographics and NP-C symptomatology observed in ≥5 % of NP-C cases
| NP-C cases (n = 106) | NP-C non-cases (n = 31) | Controls (n = 63) | All patients (N = 200) | |
|---|---|---|---|---|
| Recruitment sites, n (%) | ||||
| Brazil | 16 (15) | 3 (10) | 13 (21) | 32 (16) |
| Czech Republic | 6 (6) | 0 (0) | 6 (10) | 12 (6) |
| France | 14 (13) | 2 (6) | 17 (27) | 33 (17) |
| Germany | 19 (18) | 14 (45) | 0 (0) | 33 (17) |
| Iran | 8 (8) | 2 (6) | 1 (2) | 11 (6) |
| Spain | 12 (11) | 10 (32) | 15 (24) | 37 (19) |
| United Kingdom | 31 (29) | 0 (0) | 11 (17) | 42 (21) |
| Gender, n (%) | ||||
| Male | 54 (51) | 22 (71) | 27 (43) | 103 (52) |
| Female | 52(49) | 9 (29) | 36 (57) | 97 (49) |
| Age (months) | ||||
| Mean (±SD) | 20.8 (16.7) | 29.0 (16.8) | 21.9 (14.2) | 22.4 (16.2) |
| Median | 16.5 | 33.0 | 23.0 | 21.5 |
| Minimum, maximum | 0.0, 58.0 | 2.0, 48.0 | 1.0, 48.0 | 0.0, 58.0 |
| Central nervous system, n (%) | ||||
| Neurological symptoms | ||||
| Acquired and progressive spasticity | ||||
| Yes | 17 (16) | 4 (13) | 21 (33) | 42 (21) |
| No/no data | 89 (84) | 27 (87) | 42 (67) | 158 (79) |
| Ataxia | ||||
| Yes | 34 (32) | 9 (29) | 21 (33) | 64 (32) |
| No/no data | 72 (68) | 22 (71) | 42 (67) | 136 (68) |
| Delayed development | ||||
| Language acquisition | ||||
| Yes | 41 (39) | 14 (45) | 32 (51) | 87 (44) |
| No/no data | 65 (61) | 17 (55) | 31 (49) | 113 (57) |
| Gross motor function | ||||
| Yes | 42 (40) | 18 (58) | 42 (67) | 102 (51) |
| No/no data | 64 (60) | 13 (42) | 21 (33) | 98 (49) |
| Fine motor function | ||||
| Yes | 32 (30) | 14 (45) | 34 (54) | 80 (40) |
| No/no data | 74 (70) | 17 (55) | 29 (46) | 120 (60) |
| Deterioration or loss of previously acquired physical skills | ||||
| Yes | 31 (29) | 6 (19) | 27 (43) | 64 (32) |
| No/no data | 75 (71) | 25 (81) | 36 (57) | 136 (68) |
| Dysphagia (± dysarthria) | ||||
| Yes | 21 (20) | 2 (6) | 22 (35) | 45 (23) |
| No/no data | 85 (80) | 29 (94) | 41 (65) | 155 (78) |
| Gelastic cataplexy | ||||
| Yes | 6 (6) | 0 (0) | 0 (0) | 6 (3) |
| No/no data | 100 (94) | 31 (100) | 63 (100) | 194 (97) |
| Hypotonia | ||||
| Yes | 46 (43) | 19 (61) | 39 (62) | 104 (52) |
| No/no data | 60 (57) | 12 (39) | 24 (38) | 96 (48) |
| Mental regression | ||||
| Yes | 13 (12) | 1 (3) | 8 (13) | 22 (11) |
| No/no data | 93 (88) | 31 (97) | 55 (87) | 179 (90) |
| Urinary and faecal incontinence inappropriate to age | ||||
| Yes | 13 (12) | 6 (19) | 13 (21) | 32 (16) |
| No/no data | 93 (88) | 25 (81) | 50 (79) | 168 (84) |
| VSGP | ||||
| Yes | 14 (13) | 0 (0) | 5 (8) | 19 (10) |
| No/no data | 92 (87) | 31 (100) | 58 (92) | 181 (91) |
| Behavioural problems | ||||
| Deterioration of previously acquired mental skills | ||||
| Yes | 21 (20) | 6 (19) | 15 (24) | 42 (21) |
| No/no data | 85 (80) | 25 (81) | 48 (76) | 158 (79) |
| Deterioration of social interaction | ||||
| Yes | 9 (8) | 3 (10) | 19 (30) | 31 (16) |
| No/no data | 97 (92) | 28 (90) | 44 (70) | 169 (85) |
| Visceral symptoms, n (%) | ||||
| Liver signs | ||||
| Hepatomegaly (historical or current) | ||||
| Yes | 74 (70) | 18 (58) | 31 (49) | 133 (62) |
| No | 32 (30) | 13 (42) | 32 (51) | 77 (39) |
| Increased conjugated direct bilirubin levels | ||||
| Yes | 44 (42) | 13 (42) | 11 (17) | 68 (34) |
| No/no data | 62 (58) | 18 (58) | 52 (83) | 132 (66) |
| Prolonged unexplained neonatal jaundice or cholestasis | ||||
| Yes | 59 (56) | 14 (45) | 15 (24) | 88 (44) |
| No/no data | 47 (44) | 17 (55) | 48 (76) | 112 (56) |
| Spleen signs | ||||
| Low platelet count (<150 × 109/L) | ||||
| Yes | 13 (12) | 10 (32) | 13 (21) | 36 (18) |
| No | 93 (88) | 21 (68) | 50 (79) | 164 (82) |
| Unexplained splenomegaly (historical or current) | ||||
| Yes | 83 (78) | 18 (58) | 23 (37) | 124 (62) |
| No | 23 (22) | 13 (42) | 40 (63) | 76 (38) |
| Pulmonary signs | ||||
| Pulmonary infiltrates | ||||
| Yes | 14 (13) | 1 (3) | 1 (2) | 16 (8) |
| No/no data | 92 (87) | 30 (97) | 62 (98) | 184 (92) |
| Pre- and peri-natal symptoms | ||||
| Foetal oedema or ascites | ||||
| Yes | 5 (5) | 2 (6) | 1 (2) | 8 (4) |
| No/no data | 101 (95) | 29 (94) | 62 (98) | 192 (96) |
| Family history, n (%) | ||||
| Consanguinity of parents | ||||
| Yes | 22 (21) | 5 (16) | 15 (24) | 42 (21) |
| No/no data | 84 (79) | 26 (84) | 48 (76) | 158 (79) |
| Parents or siblings with NP-C | ||||
| Yes | 25 (24) | 0 (0) | 0 (0) | 25 (13) |
| No/no data | 84 (79) | 31 (100) | 63 (100) | 175 (89) |
N, number of patients in population; n, number of patients with assessment; NP-C Niemann-Pick disease Type C, SD standard deviation, VSGP vertical supranuclear gaze palsy