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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Fig. 2

ICARS results in patients versus control subjects, and correlations with NPCRS, neuroimaging and IQ findings. Legends: a ICARS: Patients’ mean 41.1 vs Controls’ mean 1.3 (p < 0.01); Postural-gait subscore: Patients’ mean 15.3 vs Controls’ mean 0.4 (p < 0.01); Kinetic subscore: Patients’ mean 20.2 vs Controls’ mean 0.8 (p < 0.01); Dysarthria subscore: Patients’ mean 3.5 vs Controls’ mean 0.1 (p < 0.01); Oculomotor subscore: Patients’ mean 1.7 vs Controls’ mean 0.1 (p < 0.01). b ICARS was statistically correlated with NPCRS with a positive coefficient of correlation (rs 0,90, p < 0.001). Regarding NPCRS sections, ICARS was correlated with Section I (Current Function) (rs 0.92, p = 0.001), and Section III (Current Clinical Assessment) (rs 0.88, p < 0.001) but not with Section II (System Specific Involvement) (rs 0.35, p = 0.27). c ICARS is negatively correlated with midsagittal vermis relative diameter (rs −0.87, p = 0.003). d There is a negative correlation between ICARS and intelligence quotient (rs −0.94, p = 0.005)

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