Erratum to: J Neurol (2013) 260:906–909 DOI 10.1007/s00415-012-6780-3
There is unfortunately a mistake in the protein notation for one of the SPG4 mutations in Table 1. The c.1253_1255delAAG mutation was identified in Patient 5. The amino acid change resulting from this deletion is p.Glu418del, not p.E418fsX198.
Table 1.
Patient | Sex | Age (years) | SPG4 mutation | BCVA RE-LE | Optic discs/OCT measurements | Eye movements | Visual electrophysiology | |
---|---|---|---|---|---|---|---|---|
Exon | cDNA change/consequence | |||||||
1 | F | 31 | 5 | c.743C>G/p.S245X | 20/20-20/20 | Normal/no RNFL thinning | Normal | Normal |
2 | M | 53 | 5 | c.743C>G/p.S245X | 20/20-20/20 | Normal/no RNFL thinning | Horizontal SWJ/saccadic pursuit | Normal |
3 | F | 50 | 6 | c.937delG/p.D313fsX1 | 20/20-20/20 | Normal/no RNFL thinning | Normal | Normal |
4 | F | 55 | 4–17 | del exon 4-17/large-scale deletion | 20/20-20/20 | Normal/no RNFL thinning | Normal | Normal |
5 | F | 29 | 10 | c.1253_1255delAAG/p.Glu418del | 20/20-20/20 | Normal/no RNFL thinning | Horizontal SWJ/saccadic pursuit | Normal |
6 | F | 25 | 11 | c.1442_1443insA/p.V482fsX5 | 20/20-20/20 | Normal/no RNFL thinning | Normal | Normal |
7 | F | 55 | 11 | c.1442_1443insA/p.V482fsX5 | 20/20-20/20 | Normal/no RNFL thinning | Horizontal SWJ/saccadic pursuit | Normal |
8 | F | 49 | 11 | c.1414G>A/p.V472I | 20/20-20/20 | Normal/no RNFL thinning | Normal | Normal |
9 | F | 72 | 11 | c.1384A>G/p.K462E | 20/60-20/30 | Normal/no RNFL thinning | Normal | Normal |
10 | M | 65 | 11 | c.1081C>A; c.1082T>A/p.L361N | 20/20-20/20 | Normal/no RNFL thinning | Normal | Normal |
BCVA best-corrected visual acuities, cDNA complementary DNA, LE left eye, OCT optical coherence tomography, RE right eye, RNFL retinal nerve fibre layer, SWJ square wave jerks
The correct table is given in the following page.
Footnotes
The online version of the original article can be found under doi:10.1007/s00415-012-6780-3.