Segmentation of retinal layers.

<p>(A) Sample ring scan with additional layer segmentation. Layers from top: Nerve fiber layer (NFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), photoreceptor layer (PRL) and retinal pigment epithelium (RPE). (B) Comparison of the mean thickness of the additional retinal layers between healthy controls (in blue) and SCA1 patients (in red).</p

Single case reports of SCA1 patients.

<p>Single case reports of SCA1 patients.</p

Log concentrations of IL-8, IL-13, IL-1β, IL-4, IL-6, IL-10, IFN-γ, TNF-α and S100B by term-born adjusted age at measurements (years).

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Differences of RNFLT between SCA1 and HC.

<p>(A) Average RNFLT (in µm) of the total ring scan (G) and in the different sectors (nasal-superior (NS), nasal (N), nasal-inferior (NI), temporal-inferior (TI), temporal (T) and temporal-superior (TS)). Error bars indicate standard deviation. Significance levels (*** for p<0.001, ** for p<0.01 and * for p<0.05) were calculated by GEE. (B) Mean RNFLT profile of both study groups in µm. (C) Both eyes (OD = right, OS = left) of a sample patient (upper line) with typical RNFLT sectors in comparison with matched healthy control (bottom line). The colors of the sectors are related to the comparison with the Spectralis normative database. Green indicates thickness values within the 95%-percentile of the database, while sectors in yellow were thinner than the 5%-percentile of the normative database and sectors in red were within the lowest 1%.</p

Longitudinal data on CSF-DCX and CSF-GPC2 in patients with repeated sampling.

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Log concentration of IL-2 by term-born adjusted age at measurements (years), with an asymptotic regression model (blue line) and 95% credible interval (grey area).

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Parameters of the asymptotic regression model assessing the relationship between DCX/GPC2 and age, and of the linear regression model assessing the relationship between DCX and GPC2.

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Concentrations of DCX, GPC2, markers of neuronal damage and cytokines (in pg/ml) in each CSF sample from the 38 patients, along with corresponding age and main diagnosis.

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Log concentration of DCX by term-born adjusted age at measurements (years).

The graph on the left shows the asymptotic relationship between CSF-DCX and age, and the right panel corresponds to the zoomed view of the dashed rectangle in the left graph. The blue line is the regression fitted curve and the grey area represents the 95% credible interval. Blue dots represent values over, and red dots below the limit of detection. The censored values are displayed as the mean value of the LOD of all DCX assays, and hence all align. One blue dot is below the mean LOD because it was within detectable range in the corresponding assay plate.</p

Demographic information and clinical of the patient cohort (SCA1) and the matched healthy controls group (HC).

<p>Results for the VEP examination were available for 6 SCA1 patients and of 5 of the matching healthy controls. For 1 SCA1 patients repeat length of the diseased allele were missing and 2 patients lack values for the healthy allele and 1 patient had no examination of the visual acuity.</p