Table 1

Clinical features and retinal nerve fibre layer measurements in patients with pathogenic SACS mutations

PatientAge (years)SexOnset (years)Clinical featuresSACS mutationsAverage RNFL Thickness
OD (μm)OS (μm)
A48F26Gait ataxia, dysarthria, spastic paraplegia and peripheral neuropathyc.2076delG (p.Thr692ThrfsX713);
c.3965_3966delAC (p.Gly1322ValfsX1343)
174175
B45M19Gait ataxia, dysarthria, spastic paraplegia and peripheral neuropathy162140
C43MLate-teensGait ataxia, dysarthria, proximal myopathy and peripheral neuropathyc.13048G>T (p.Glu4350X); 0.7Mb deletion (13q12.12)138122
D46MMid-teensGait ataxia, dysarthria, proximal myopathy and peripheral neuropathy152169
E69MLate-teensGait ataxia, spastic paraplegia and peripheral neuropathyc.1580C>G (p.Ser527X); c.6781C>A (p.Leu2261Ile)11186
  • Patients A and B, and patients C and D, are two pairs of siblings. The molecular genetic characterisation of these four patients with next-generation whole exome sequencing has been previously reported.4 ,5 All the patients presented with progressive gait ataxia and they were severely disabled, requiring the use of a wheelchair for ambulation. Four patients (A, B, C and D) had significant peripapillary RNFL thickening outside the normal range for healthy controls (mean average thickness=100.3 μm, SD=1.8 μm). No patient had a significant refractive error that could be a confounding variable in the analysis of peripapillary RNFL thickness.

  • OD, right eye; OS, left eye; RNFL, retinal nerve fibre layer.