Table 1.
| Disease | Genetics | Human Phenotype | Transgenic Models | Manipulations of Models |
|---|---|---|---|---|
| SCA1 | poly-Q | ataxia + | Pcp2/L7-tg (13) | functional modification of mutant gene (29,30,52,57) |
| Ataxin-1 | motor neurons | Tet-Pcp2/L7-tg (101) | crossed with other tg mice (25,77) | |
| extrapyramidal | Knock-in (59,91) | gene therapy (94) | ||
| Knock-out (60) | precursor cell transplantation (17) | |||
| Tet-PrP-tg (37) | drug therapy (89) | |||
| SCA2 | poly-Q | ataxia + | Pcp2/L7-tg (45) | drug therapy (58) |
| Ataxin-2 | extrapyramidal | ATX2 promoter-tg (3) | ||
| motor-sensory | Knock-out (51) | |||
| SCA3 | poly-Q | ataxia + | Pcp2/L7-tg (47,85) | functional modification of mutant gene (5,47) |
| Ataxin-3 | motor neurons | YAC-tg (14) | crossed with other tg mice (93) | |
| extrapyramidal | PrP-tg (5,20,38) | gene therapy (72) | ||
| peripheral n. | Tet-PrP-tg (10) | drug therapy (16,19,61) | ||
| Htt-tg (9) | ||||
| CMV-tg (81) | ||||
| Knock-out (76,84) | ||||
| SCA6 | poly-Q CACNA1A | ataxia | Knock-in (74,78) | |
| SCA7 | poly-Q | ataxia + | Pcp2/L7-tg (97) | crossed with other tg mice (62) |
| Ataxin-7 | blindness | PDGF-B-tg (18,96) | ||
| motor neurons | PrP-tg (55) | |||
| extrapyramidal | Gfa2-tg (26) | |||
| Rhodopsin-tg (2) | ||||
| Knock-in (95) | ||||
| SCA8 | CTG-expansion | ataxia + | BAC-tg (63) | |
| Ataxin-8OS | spasticity | klhl-1-KO (40) | ||
| SCA17 | poly-Q | ataxia + | PrP-tg (32) | |
| TATA-BP | dementia | |||
| extrapyramidal |