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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
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