Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Table 1 Genes and genetic loci associated with ADCA types

Subform	Gene	Gene product	Mutation	Locus
ADCA Type I
SCA1	ATXN1	Ataxin 1	CAG repeat	6p22.3
SCA2	ATXN2	Ataxin 2	CAG repeat	12q24.12
SCA3	ATXN3	Ataxin 3	CAG repeat	14q32.12
SCA4	UN	UN	UN	16q22.1
SCA8	ATXN8OS	Ataxin 8	CTG/CAG repeat	13q21.33
SCA10	ATXN 10	Ataxin 10	ATTCT repeat	22q13.31
SCA12	PPP2R2B	PPP2R2B	CAG repeat	5q32
SCA13	KCNC3	KCNC3	Missense	19q13.33
SCA14	PRKCG	PRKCG	Missense	19q13.42
SCA15/SCA16	ITPR1	ITPR1	Missense, deletion	3p26.1
SCA17	TBP	TBP	CAG repeat	6q27
SCA18	UN	UN	UN	7q22-q32
SCA19/SCA22	KCND3	KCND3	Missense, deletion	1p13.2
SCA20	UN	UN	UN	11q12
SCA21	UN	UN	UN	7p21.3-p15.1
SCA23	PDYN	prodynorphin	UN	20p13
SCA25	UN	UN	UN	2p21-p13
SCA27	FGF14	FGF14	Missense, frameshift	13q33.1
SCA28	ATG3L2	ATG3L2	Missense	18p11.21
SCA32	UN	UN	UN	7q32-q33
SCA34	UN	UN	UN	6p12.3-q16.2
SCA35	TGM6	TGM6	Missense	20p13
SCA36	NOP56	NOP56	GGCCTG repeat	20p13
ADCA Type II
SCA7	ATXN7	Ataxin 7	CAG repeat	3p14.1
ADCA Type III
SCA5	SPTBN2	SPTBN2	Inframe deletion, missense	11q13.2
SCA6	CACNA1A	CACNA1A	CAG repeat	19q13.2
SCA11	TTBK2	TTBK2	Stop, frameshift insertion, frameshift deletion	15q15.2
SCA26	UN	UN	UN	19p13.3
SCA30	UN	UN	UN	4q34.3-q35.1
SCA31	BEAN-TK2	BEAN	TGGAA repeat	16q21

ADCA: autosomal dominant cerebellar ataxia; AFG3L2: ATPase family gene 3-like 2; ATSN8OS: ataxin 9 opposite strand; ATN: atrophin; ATXN: ataxin; BEAN: brain expressed, associated with Nedd4; CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CBMC: cord blood-derived mononuclear cells; EAAT4: excitatory amino acid transporter; FGF14: fibroblast growth factor 14; ITPR1: inositol 1,4,5-triphosphate receptor 1; KCNC3: potassium voltage-gated channel subfamily C member 3; KCND3: potassium voltage-gated channel, shal-related subfamily, member 3; MRI: magnetic resonance imaging; NOP56: NOP56 ribonucleoprotein homolog; PPP2R2B: protein phosphatase 2, regulatory subunit B, beta isoform; PRKCG: protein kinase Cγ; RNAi: RNA interference; SCA: spinocerebellar ataxia; siRNA: small interfering RNA; SPTBN2: spectrin, beta, non-erythrocytic 2; TATA: thymine adenosine thymine adenosine; TBP: TATA box binding protein; TGM6: transglutaminase 6; TK2: thymidine kinase 2; TTBK2: tau tubulin kinase-2; UN: unknown.

ISSN: 1750-1172