autosomal dominant ataxias

Subtype

Chromosome

Gene

Pathomechanism

Phenotype

SCA1

6p23

Ataxin-1

(CAG)>38

ADCA I

SCA2

12q24.1

Ataxin-2

(CAG)>32

ADCA I

SCA3

14q32.1

Ataxin-3

(CAG)>54

ADCA I

SCA4

16q22.1

ADCA I + III

SCA5

11

SPTBN2

Beta-III-Spectrin

ADCA III

SCA6

19q13

CACNA1A

(CAG)>19, P/Q-Ca-Kanal

ADCA III

SCA7

3p12-13

Ataxin-7

(CAG)>37

ADCA II

SCA8

13q21

Ataxin-8?

(CTG)107-127 in 3’UTR?

RNA processing?

ADCA I

SCA9

SCA10

22q13

Ataxin-10

(ATTCT)>550 in Intron9

ADCA I + III

SCA11

15q14-21.3

ADCA III

SCA12

5q31-33

PP2A-PR55ß

(CAG)>65 in 5’-UTR

ADCA I

SCA13

19q13

KCNC3

Potassium channel

ADCA I

SCA14

19q13.4-qter

PKCγ

Protein kinase

ADCA III

SCA15

3p

ADCA III

SCA16

8q

ADCA III

SCA17

6q27

TATA-BP

Transcription factor

ADCA I

SCA18

7q

ADCA I

SCA19

1p

ADCA I

SCA20

11

ADCA III?

SCA21

7p

ADCA I

SCA22

1p

ADCA III?

SCA23

20p

ADCA I

SCA24

ADCA I

SCA25

2p21-p13

ADCA I

SCA26

19p13.3

ADCA III

SCA27

13q34

FGF-14

Fibroblast growth factor

ADCA I

SCA28

18

ADCA I / HMSN

DRPLA

12p13

Atrophin-1

(CAG)>49

ADCA I