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. 2016 Feb 2;263:419–420. doi: 10.1007/s00415-015-8008-9

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

Grant Guthrie 1,2, Gerald Pfeffer 2,3, Maura Bailie 1, Karen Bradshaw 1,4, Andrew C Browning 1, Rita Horvath 2,3, Patrick F Chinnery 2,3, Patrick Yu-Wai-Man 1,2,3,
PMCID: PMC4969930  PMID: 26837615

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.

Molecular genetic and ophthalmological features of the SPG4 patient cohort

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.


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