Table 3 Genetic Characteristics of ADCA type 1
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 | --- | --- |