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Autosomal dominant neurodegenerative diseases [97-98] |
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| Disease |
Mutant Gene |
Mutation |
Transgenic Mouse Model |
|
|
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| FAD |
APP |
Mainly missense |
Mutant APP and APP:PS1 |
| FAD |
PS1 |
Mainly missense |
Mutant PS1 |
| FAD |
PS2 |
Mainly missense |
Mutant PS2 |
| FALS |
SOD1 |
Mainly missense |
Mutant SOD1 |
| FTDP-17 |
Tau |
Missense & splice |
Mutant Tau |
| PD |
α-synuclein |
Missense |
wt/mutant αsyn |
| Prion |
PrP |
Mainly missense |
Mutant PrP |
| HD |
huntingtin |
Polyglutamine |
huntingtin (expanded repeat) |
| SCA-1 |
ataxin-1 |
Polyglutamine |
ataxin-1 (expanded repeat) |
| SCA-3 |
ataxin-3 |
Polyglutamine |
ataxin-3 (expanded repeat) |
| DRPLA |
atrophin-1 |
Polyglutamine |
atrophin-1 (expanded repeat) |
|
FAD: Familial Alzheimer's Disease FALS: Familial amyotrophic lateral sclerosis with Parkinsonism HD: Huntington's Disease DRPLA: Dentatorubral and pallidoluysian atrophy PD: Parkinson's Disease SCA: Spinocerebellar ataxias FTDP: Frontotemporal Dementia | |||
Chan Reproductive Biology and Endocrinology 2004 2:39 doi:10.1186/1477-7827-2-39 |
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