Clinical characteristics and smell test results of 16 patients with adult Refsum’s disease
Patient | Age (years) | Year of presentation | Microsmia | Bone changes | Ataxia | Phytanic acid (μmol/l) | Smell test (/40) | |
---|---|---|---|---|---|---|---|---|
Peak | Current | |||||||
1 | 72 | 1989 | + | − | + | 650 | 10 | 12 |
2 | 18 | 1998 | + | + | + | 1252 | 530 | 23 |
3 | 41 | 1984 | + | + | + | 1070 | 217 | 24 |
4 | 36 | 2001 | + | + | + | 143 | 136 | 11 |
5 | 50 | 1987 | + | + | + | 530 | 123 | 23 |
6 | 41 | 1987 | + | + | − | 1987 | 160 | 16 |
7 | 56 | 1970 | + | − | + | 2810 | 10 | 11 |
8 | 44 | 1986 | + | − | + | 999 | 23 | 11 |
9 | 49 | 1986 | + | − | + | 568 | 136 | 15 |
10 | 45 | 1986 | + | − | + | 1013 | 232 | 14 |
11 | 41 | 1986 | + | − | + | 1313 | 344 | 13 |
12 | 31 | 1990 | + | − | + | 2684 | 166 | 12 |
13 | 61 | 1987 | + | − | + | 1048 | 10 | 15 |
14 | 18 | 1997 | + | + | − | 49 | 5 | 8 |
15 | 75 | 1956 | + | − | + | 1172 | 41 | 12 |
16 | 30 | 2001 | + | + | − | 608 | 342 | 15 |