Table 1 Summary of the families in the current study
From: High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
Family | Sex | Age (decade) | Age at onset (decade) | Ambulatory function † | DPS | SPAST mutation | Mutation location | Presumed effect of the mutation |
|---|---|---|---|---|---|---|---|---|
1‡ | F | 6 | 2 | 2 | 0.50 | c.1714_1715 del AT (p.M572VfsX3)§ | Exon 16 | Protein truncation |
F* | 4 | 2 | 2 | 1.00 | ||||
2‡ | F* | 7 | 5 | 3 | 1.58 | Deletion of 5′- region of exon 17 (p.M577DfsX16) | Exon 17 | Protein truncation |
F | 4 | 2 | 2 | 0.74 | ||||
M | 1 | 1 | 1 | 2.00 | ||||
3‡ | M* | 7 | 5 | 4 | 1.82 | c.1382 T > C (p.L461P) | Exon 11 | Missense |
M | 6 | 6 | 2 | 4.00 | ||||
M | 6 | 5 | 3 | 3.00 | ||||
M | 4 | - | 0 | 0.00 | ||||
F | 3 | 3 | 1 | 3.33 | ||||
M | 3 | 2 | 3 | 5.00 | ||||
F | 3 | - | 0 | 0.00 | ||||
4‡ | F | 8 | 6 | 4 | 1.90 | Deletion of exon 17 | Exon 17 | Protein truncation? |
M* | 6 | 5 | 3 | 3.75 | ||||
F | 5 | 5 | 2 | 5.00 | ||||
5 | M* | 7 | 2 | 3 | 0.70 | Deletion of the whole gene | Exon 1-17 | No mRNA production |
6 | M | 5 | - | 0 | 0 | c.1361_1363 ins GGG✰ | Exon 11 | mRNA decay |
M* | 2 | 1 | 1 | 1.00 | ||||
M | 1 | 1 | 1 | 1.67 | ||||
7 | F* | 6 | 5 | 2 | 1.82 | c.1714_1715 del AT (p.M572VfsX3)§ | Exon 16 | Protein truncation |
M | 4 | 1 | 2 | 0.67 | ||||
F | 5 | 1 | 1 | 0.29 | ||||
M | 2 | 1 | 1 | 0.83 | ||||
M | 5 | 2 | 2 | 0.57 | ||||
8 | F* | 6 | 5 | 3 | 3.00 | c.1684 C > T (p.R562X) | Exon 15 | Protein truncation |
9 | M | 4 | 3 | 3 | 2.31 | c.1005-1 G > C (p.N335NfsX2)§ | Intron 6 | Protein truncation |
F | 1 | 1 | 1 | 2.00 | ||||
M* | 1 | 1 | 1 | 2.00 | ||||
10 | F | 8 | 4 | 1 | 0.28 | c.1004 + 1 G > T (p.G291WfsX4)✰ | Intron 6 | Protein truncation |
M | 6 | 1 | 1 | 0.24 | ||||
F* | 5 | 2 | 1 | 0.34 | ||||
M | 1 | 1 | 2 | 2.86 | ||||
11 | F* | 5 | 4 | 2 | 2.00 | c.1738_1740 del ATT/ins GA (p.I580DfsX9)¶✰ | Exon 17 | Protein truncation |
12 | M* | 6 | 4 | 3 | 1.50 | c.1664 A > G (p.D555G) | Exon 15 | Missense |
13 | F | 7 | 6 | 3 | 2.00 | c.448_451 del AAGA (p.K150KfsX9) | Exon 2 | Protein truncation |
M* | 5 | 1 | 3 | 0.77 | ||||
14 | M* | 6 | 5 | 2 | 5.00 | Not detected | Not applicable | |
15 | F | 8 | 7 | 3 | 6.00 | c.1741 C > T (p.R581X)∥ | Exon 17 | Protein truncation |
M* | 6 | 5 | 2 | 1.54 | ||||
M | 5 | 5 | 1 | 2.00 | ||||
16 | F | 7 | 5 | 3 | 1.58 | c.730 ins T, c.732_733 ins CA (p.N244X)# | Exon 5 | Protein truncation |
M* | 6 | 5 | 3 | 2.50 | ||||
17 | F | 7 | 7 | 2 | 4.00 | c.1741 C > T (p.R581X)∥ | Exon 17 | Protein truncation |
M* | 5 | 3 | 3 | 2.31 | ||||
18 | M* | 7 | 3 | 2 | 0.54 | c.730 ins T, c.732_733 ins CA (p.N244X)# | Exon 5 | Protein truncation |
M | 6 | 4 | 3 | 1.88 | ||||
19 | M* | 3 | 2 | 1 | 1.67 | Not detected | Not applicable | |
20 | F | 6 | 5 | 3 | 3.33 | c.1738_1740 del ATT/ins GA (p.I580DfsX9)¶✰ | Exon 17 | Protein truncation |
M | 6 | 4 | 2 | 1.54 |