Table 1.
Pedigree ID | Disease | Sex | Age at onset | Age at blood collection | Allele 1 count | Allele 1 count range | Allele 2 count | Allele 2 count range | Repeat type |
---|---|---|---|---|---|---|---|---|---|
II.6 | unaffected | F | N/A | 90 | 38 | 13–14 | none | N/A | normal |
III.2a | SCA10 | F | 35 | 71 | N/A | N/A | N/A | N/A | interrupted |
III.3a | SCA10 | F | 48 | 68 | N/A | N/A | N/A | N/A | interrupted |
III.4 | unaffected | M | N/A | 65 | 143 | 13–14 | 130 | 4750-7187 | pure |
III.6a | unaffected | F | N/A | 70 | N/A | N/A | N/A | N/A | pure |
III.7a | SCA10 | M | 48 | 65 | N/A | N/A | N/A | N/A | interrupted |
III.8a | Parkinson’s | M | 38 | 57 | N/A | N/A | N/A | N/A | pure |
III.9a | SCA10 | F | 37 | 53 | N/A | N/A | N/A | N/A | interrupted |
IV.1 | SCA10 | F | 44 | 44 | 263 | 13–14 | 22 | 6422-6927 | interrupted |
IV.4 | unaffected | F | 51 | 51 | 76 | 15–16 | 5 | 6338-6515 | interrupted |
IV.5 | unaffected | F | 41 | 41 | 193 | 13–15 | 59 | 6244-9318 | interrupted |
IV.6 | unaffected | F | 43 | 43 | 183 | 13–15 | 73 | 5914-8314 | interrupted |
IV.7 | unaffected | F | N/A | 39 | 271 | 15–17 | 49 | 330-14038 | pure |
IV.8 | unaffected | F | N/A | 19 | 193 | 16–17 | 58 | 2383-7920 | pure |
IV.9 | unaffected | F | N/A | 44 | 297 | 13–17 | 419 | 2730-6502 | pure |
Individuals previously published in Schüle et al.15