Skip to main content

Table 3 Genetic Characteristics of ADCA type 1

From: Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

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

---

---

  1. 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