| Subtyp | chromosomale Lage | Gen | Pathomechanismus | Phänotyp |
| SCA1 | 6p23 | Ataxin-1 | (CAG) > 38 | ADCA I |
| SCA2 | 12q24.1 | Ataxin-2 | (CAG) > 32 | ADCA I |
| SCA3 | 14q24.3-q31 | Ataxin-3 | (CAG) > 54 | ADCA I |
| SCA4 | 16q22.1 | ADCA I+III | ||
| SCA5 | 11q13 | SPTBN2 | Beta-III-Spectrin | ADCA III |
| SCA6 | 19q13 | CACNA1A | (CAG) > 19, P/Q-Ca-Kanal | ADCA III |
| SCA7 | 3p21.1-p12 | Ataxin-7 | (CAG) > 37 | ADCA II |
| SCA8 | 13q21 | Ataxin-8? | (CTG)107-127 in 3’UTR? RNS-Bearbeitung? | ADCA II |
| SCA9 | ? | |||
| SCA10 | 22q13 | Ataxin-10 | (ATTCT)>550 in Intron 9 | ADCA I+III |
| SCA11 | 15q15.2 | Tau-Tubulin-Kinase 2 | Phosphorylierung | ADCA III |
| SCA12 | 5q31-33 | PP2A-PR55ß | (CAG) > 165 in 5’-UTR | ADCA I |
| SCA13 | 19q13.3-q13.4 | KCNC3 | Kaliumionenkanal | ADCA I |
| SCA14 | 19q13.4-qter | PKC | Proteinkinase C | ADCA III |
| SCA15 | 3p26.1-p25.3 | ADCA III | ||
| SCA16 | 8q | ADCA III | ||
| SCA17 | 6q27 | TATA-BP | Transkriptionsfaktor | ADCA I |
| SCA18 | 7q22-q23 | SMNA | ADCA I | |
| SCA19 | 1p21-q21 | ADCA I | ||
| SCA20 | 11p13-q11 | ADCA III? | ||
| SCA21 | 7p | ADCA I | ||
| SCA22 | 1p | ADCA III? | ||
| SCA23 | 20p13-p12.3 | ADCA I | ||
| SCA24 | ADCA I | |||
| SCA25 | 2p21-p13 | ADCA I | ||
| SCA26 | 19p13.3 | ADCA III | ||
| SCA27 | 13q34 | FGF-14 | Fibroblastenwachstumsfaktor | ADCA I |
| SCA28 | 18p11.22-q11.2 | ADCA I | ||
| SCA29 | 3p26 | CLA4 | ||
| DRPLA | 12p13 | Atrophin-1 | (CAG) > 49 | ADCA I |
Teil von
Quellen
Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease.
Nature 480(2011):543-6
Universität Bonn
Links
