|
ADCA
|
Gene/Gene product
|
Gene Locus
|
Repeat Type
|
Test Availability
|
|---|
|
SCA1
|
SCA1/ataxin 1
|
6p23
|
CAG
|
Yes
|
|
SCA2
|
SCA2/ataxin 2
|
12q24
|
CAG
|
Yes
|
|
SCA3
|
MJD/ataxin 3
|
14q24.3-q31
|
CAG
|
Yes
|
|
SCA4
|
Unkown
|
---
|
---
|
---
|
|
SCA8
|
SCA8/ataxin 8
|
13q21
|
CTG
|
Yes
|
|
SCA12
|
SCA12(PPP2R2B)/Serine/threonine protein phosphatase 2A, 55 kDA regulatory subunit B, beta isoform
|
5q31-q33
|
CAG
|
Yes
|
|
SCA13
|
SCA13/KCNC3 (encodes for a voltage-gated potassium channel)
|
19q13.3-q13.4
|
NA
|
Yes
|
|
SCA16
|
SCA16/contactin 4?
|
3p26.2-pter
|
---
|
---
|
|
SCA17
|
TBP/TATA-box binding protein
|
6q27
|
CAG
|
Yes
|
|
SCA18
|
Unknown
|
7q22-q32
|
---
|
---
|
|
SCA19
|
Unknown
|
1p21-q21
|
---
|
---
|
|
SCA21
|
Unknown
|
7p21.3-p15.1
|
---
|
---
|
|
SCA23
|
Unknown
|
20p13-12.3
|
---
|
---
|
|
SCA27
|
FGF14/ FGF 14
|
13q34
|
NA
| |
|
SCA28
|
SCA28/ unknown
|
18p11.22-q11.2
|
---
|
---
|
- ADCA = autosomal dominant cerebellar ataxia; SCA = spinocerebellar ataxia; PPP2R2B = protein phosphatase 2, regulatory subunit B, beta isoform; KCNC3 = Potassium voltage-gated channel subfamily C member 3; TBP = TATA box binding protein; TATA = thymine adenosine thymine adenosine; FGF14 = fibroblast growth factor 14
