Table 1.
Demographics
| Variable | Parents | Unaffected siblings | Partners |
|---|---|---|---|
| Participant (n/N) | 81/100 | 13/100 | 6/100 |
| Sex (male%) | 36% (29/81) | 54% (7/13) | 50% (6/6) |
| Continent (%) | |||
| Europe | 52% (42/81) | 69% (9/13) | 50% (3/6) |
| North-America | 28% (23/81) | 23% (3/13) | 17% (1/6) |
| South-America | 15% (10/81) | 8% (1/13) | 17% (1/6) |
| Other | 7% (6/81) | 0% (0/13) | 17% (1/6) |
| Age of the unaffected family member | |||
| Mean (± SD) | 45.3 (11.0) | 25.4 (12.7) | 52.4 (11.2) |
| Median (IQR) | 43.6 (38.0–50.3) | 23.6 (14.9–29.1) | 55.6 (44.6–61.5) |
| Multiple affected individuals (yes%) | 17% (14/81) | 31% (4/13) | NA |
| Multiple unaffected individuals (yes%) | 73% (59/81) | 69% (9/13) | NA |
| VWM patients (n/N) | 67/74 | 15/74 | 6/74 |
| Age | |||
| Mean (± SD) | 14.0 (± 9.9) | 25.2 (± 16.6) | 51.9 (± 13.2) |
| Median (IQR) | 12.0 (6.7– 17.3) | 20.0 (13.5–32.6) | 54.3 (43.0–60.8) |
| Adult patients (%) | 22% (15/67) | 53% (8/15) | 100% (6/6) |
| Sex (male%) | 57% (38/67) | 47% (7/15) | 50% (3/6) |
| Disease duration | |||
| Mean (± SD) | 9.7 (± 8.8) | 15.7 (± 10.0) | 11.3 (± 7.9) |
| Median (IQR) | 7.4 (2.7–14.1) | 14.0 (10.9–18.2) | 12.0 (4.5–15.3) |
| Age of disease onset | |||
| Mean (± SD) | 4.3 (± 3.5) | 9.5 (± 9.4) | 40.6 (± 18.8) |
| Median (IQR) | 3.0 (2.0–5.0) | 5.5 (4.0–13.5) | 46.5 (25.0- 49.3) |
| Episodes of rapid decline (yes%) | 70% (47/67) | 80% (12/15) | 100% (6/6) |
| Loss of walking without support (yes%) | 69% (46/67) | 73% (11/15) | 50% (3/6) |
| Loss of walking with support (yes%) | 48% (32/67) | 40% (6/15) | 33% (2/6) |
| Tube feeding (yes%) | 13% (9/67) | 0% (0/15) | 0% (0/6) |
| Cognitive decline (yes%) | 42% (28/67) | 67% (10/15) | 83% (5/6) |
| Seizures (yes%) | 34% (23/67) | 20% (3/15) | 33% (2/6) |
| Behavioral problems (yes%) | 46% (31/67) | 44% (7/15) | 50% (3/6) |
N, number; N, total number; NA, Not Applicable; SD, standard deviation; IQR, interquartile range