Table 1 Summary genotyped polyglutamine disease-associated genes

Gene	Disease	Protein	CAG repeat ranges		Allele	Mean	Median	N	Range	No. of intermediate ^a	No. of pathological ^a
			Normal	Pathological
ATXN1	SCA1	Ataxin-1	6–39	41–83	Short	29.22	29.00	3228	18–35	0	0
					Long	30.76	30.00	3228	26–39	0	0
ATXN2	SCA2	Ataxin-2	14–32	33–500	Short	21.91	22.00	3236	14–24	0	0
					Long	22.35	22.00	3236	22–36	0	2 (33, 36)
ATXN3	SCA3	Ataxin-3	12–44	52–87	Short	18.96	20.00	3235	13–33	0	0
					Long	24.27	23.00	3235	13–49	1 (49)	0
CACNA1A	SCA6	CACNA1A	4–18	20–33	Short	10.52	11.00	3220	4–14	0	0
					Long	12.45	13.00	3220	4–22	0	1 (22)
ATXN7	SCA7	Ataxin-7	3–19	37–460	Short	10.04	10.00	2979	7–15	0	0
					Long	10.85	10.00	2979	7–19	0	0
TBP	SCA17	TBP	25–43	45–66	Short	36.31	37.00	3238	27–39	0	0
					Long	37.89	38.00	3238	32–48	1 (44)	1 (48)
ATN1	DRPLA	Atrophin-1	3–38	48–93	Short	12.36	14.00	3228	5–22	0	0
					Long	15.47	15.00	3228	8–30	0	0
AR	SMBA	Androgen receptor	6–36	38–72	Short	20.80	21.00	3228	8–36	0	0
					Long	22.90	23.00	3228	8–36	0	0

Abbreviations: CACNA1A, calcium channel, voltage-dependent P/Q type, α 1A subunit; CAG, cytosine–adenine–guanine; DRPLA, dentatorubropallidoluysian atrophy; SBMA, spinal bulbar muscular atrophy; SCA, spinocerebellar ataxia; TBP, thymine-adenine-thymine-adenine (TATA) box-binding protein.

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