TABLE 1.
Family | Age | Phenotype | ABCD1 mutation | ELOVL1 (A > G) | CYP4F2 (C > T) | APOE rs429358 | APOE rs7412 | APOE Genotype |
1 | 28 | CALD | c.1390C>T | G/G | T/T | T/T | C/C | ε3/ε3 |
1 | 28 | Non-CALD | G/G | C/T | T/T | C/C | ε3/ε3 | |
2 | 30 | CALD | c.1899delC | A/G | C/C | T/T | C/C | ε3/ε3 |
2 | 30 | Non-CALD | A/G | C/C | T/T | C/C | ε3/ε3 | |
3 | 38 | CALD | c.1992-2A>G | A/G | C/C | T/T | C/C | ε3/ε3 |
3 | 36 | Non-CALD | A/G | C/C | T/T | C/C | ε3/ε3 | |
4 | 6 | CALD | c.659T>C | A/A | C/T | T/T | T/T | ε2/ε2 |
4 | 8 | Non-CALD | A/A | C/T | T/T | T/T | ε2/ε2 | |
5 | 16 | CALD | c.1866-2A>T | A/G | C/C | T/C | C/C | ε3/ε4 |
5 | 18 | Non-CALD | G/G | C/C | T/C | C/C | ε3/ε4 | |
6 | 27 | CALD | c.892G>A | A/A | C/C | T/C | C/C | ε3/ε4 |
6 | 25 | Non-CALD | A/G | C/C | T/C | C/C | ε3/ε4 |
The family number, age at sample collection, ALD phenotype, ABCD1 variant, and genotypes for previously associated modifier alleles for all patients within the cohort.