Table 1.
Spectrum of cases of TDP-43 proteinopathy used to determine allele expression
Case ID | Clinical/genetic phenotype | Mutation | Age at onset (years) | Duration (years) | Age at death (years) |
---|---|---|---|---|---|
1 | FTLD with TARDBP 3′UTR variant | 2,076 G>A | 66 | 4 | 70 |
2 | FTLD with VCP mutation | R155H | 38 | 9 | 47 |
3 | FTLD-TDP-1 | Sporadic | 62 | 11 | 73 |
4 | FTLD-TDP-2 | Sporadic | 61 | 6 | 67 |
5 | MND with TARDBP mutation | A315T | 83 | 5 | 88 |