Table 1.
Clinical features of the NGFB carriers
| Mutation | Gender | DoB | Age of Onset, yr | Charcot Joint | Fractures | NDS | MNSI | CTS |
|---|---|---|---|---|---|---|---|---|
| Ho | F | 1983 | 7 | Knee, ankle, hip | Yes | 7 | 4.5 | No |
| Ho | M | 1990 | 4 | Knee, ankle, spine | Yes | 3 | 4.5 | No |
| Ho | M | 1948 | 7 | Knee, ankle, spine, elbow | Yes | 5 | 3 | No |
| He | M | 1996 | No | No | 0 | No | ||
| He | M | 1992 | No | No | 0 | 0 | No | |
| He | M | 1989 | No | No | 0 | 1 | ||
| He | M | 1985 | No | No | 0 | 0 | No | |
| He | M | 1981 | No | No | 0 | 0 | No | |
| He | F | 1967 | No | No | 0 | 2 | Yes | |
| He | F | 1962 | 15 | Hip | No | 1 | ||
| He | F | 1960 | No | No | 2 | 2 | Yes | |
| He | M | 1958 | No | No | 1 | 1 | Yes | |
| He | F | 1952 | 20 | Knee | No | 2 | 0 | No |
| He | M | 1951 | 20 | Knee | No | 0 | 1 | Yes |
| He | F | 1946 | Gonarthrosis | No | 1 | 2 | No | |
| He | F | 1942 | No | No | 5 | 3 | Yes | |
| He | F | 1936 | Gonarthrosis | no | 2 | 0 | No | |
| He | M | 1934 | No | No | 5 | 1.5 | Yes | |
| He | M | 1933 | 50 | Knee | No | 3 | Yes |
NGFB, nerve growth factor-β; DoB, date of birth; NDS, Neuropathy Disability Score; MNSI, Michigan Neuropathy Screening Instrument; CTS, carpal tunnel syndrome; Ho, homozgyous; He, heterozygous. MNSI scores were collected in a previous investigation (Larsson et al. 2009). CTS scores were collected in a separate study (Hellgren T, Svensson O, Minde J, unpublished data).