Table 1.

Published intragenic CNVs in SPAST of size >30 bp.

No.	Exon(s) Involved	Clinical Diagnosis (No. different families if >1)	Method of Detection	Coordinatesa	Reference
Deletions
1	1	AD-HSP	MLPA	-	15
2	1	AD-HSPb (3 families)	MLPA	-	12
3	1	HSP	MLPA	-	14
4	1	AD-HSP (1 or 2 families)	MLPA	-	17
5	1 (partial)	AD-HSP	Southern blot, seq	Chr2:32,142,293 −32,144,598	31
6	1–3	AD-HSP	MLPA	-	15
7	1–3	HSP	MLPA	-	16
8	1–4	AD-HSPb	MLPA	-	12
9	1–7	AD-HSP	MLPA	-	15
10	1–17	AD-HSPb (4 families)	MLPA	-	12
11	2–5	AD-HSP	MLPA	-	15
12	2–9	Familial HSP	MLPA	-	16
13	2–16	AD-HSP	MLPA	-	49
14	2–16	Familial HSP	MLPA	-	16
15	2–17	HSP	MLPA	-	14
16	3–17	Spastic paraplegia	MLPA	-	50
17	4	HSP	MLPA	-	50
18	4–17	AD-HSP	MLPA	-	49
19	4–17	AD-HSPb	MLPA	-	12
20	5	HSP	MLPA	-	14
21	5–6	AD-HSPb	MLPA	-	12
22	5–7	AD-HSP	MLPA	-	15
23	5–7	AD-HSPb	MLPA	-	12
24	5–15	AD-HSP (2 families)	MLPA	-	15
25	6	AD-HSPb	MLPA	-	12
26	6–17	AD-HSP	MLPA	-	15
27	8	Familial HSP	MLPA	-	16
28	8–9	AD-HSP	MLPA	-	17
29	8–12	AD-HSPb	MLPA	-	12
30	8–17	AD-HSP	MLPA	-	49
31	8–17	AD-HSPb (2 families)	MLPA	-	12
32	9	AD-HSPb	MLPA	-	12
33	9–12	AD-HSPb	MLPA	-	12
34	9–17	Familial HSP	MLPA	-	16
35	10	AD-HSP	MLPA	-	15
36	10–12	AD-HSP	MLPA	-	15
37	10–12	AD-HSP	MLPA	-	49
38	10–12	HSP	MLPA	-	14
39	10–12	AD-HSP	MLPA	-	51
40	10–16	AD-HSPb	MLPA	-	12
41	10–16	Familial HSP	MLPA	-	52
42	13	AD-HSPb (2 families)	MLPA	-	12
43	13–16	HSP	PCR and electrophoresis of cDNA	-	5
44	14–17	Spastic paraplegia	MLPA	-	50
45	16	AD-HSP	MLPA	-	49
46	16	AD-HSPb (2 families)	MLPA	-	12
47	16–17	AD-HSP	MLPA	-	15
48	16–17	AD-HSPb	MLPA	-	12
49	17	AD-HSP	MLPA	-	15
50	17	AD-HSP (2 families)	MLPA	-	49
51	17	AD-HSPb	MLPA	-	12
52	17	HSP	MLPA	-	16
53	17	Sporadic spastic paraplegia	MLPA	-	51
54	17	HSPc	MLPA, LS- aCGH, seq	See text and figures	Present Investigation (Patient A37)
55	17	HSPc	MLPA, LS- aCGH, seq	See text and figures	Present Investigation (Patient A39)
Duplication
56	10–12	AD-HSP	MLPA, seq	Chr2:32,212,239 −32,216,284	6
Complex
57	17	HSPc	MLPA, LS- aCGH, seq	See text and figures	Present Investigation (Patient A38)

^aMarch 2006 assembly of the reference genome (NCBI36/hg18).

^bOne of 121 families studied by Depienne et al.¹² displayed disease in two siblings, rather than strict AD inheritance. It is unclear whether this family is represented by any exonic CNV reported in the table.

^cInheritance is not known for these anonymized samples.

AD, autosomal dominant; HSP, hereditary spastic paraplegia; MLPA, multiplex ligation-dependent probe amplification; LS-aCGH, locus-specific aCGH; seq, DNA sequencing.