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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Figure 1

Disability scoring and stroke-like lesions in patients with ARCA2. Functional Score (SDFS, top left) and Scale for the Assessment and Rating of Ataxia (SARA, bottom left) evaluated during the last examination are presented according to the duration of ataxia in 13 and 9 patients (numbered #1 to #14), respectively. Patient #7 with infantile global brain degeneration clearly stands out from other patients with the mild phenotype (top left). SDFS and SARA scores do not appear to be correlated with the duration of ataxia, as confirmed by the Spearman rank correlation analysis (see text). The evolution of the SDFS with time was determined in nine patients (top right). It did not change during childhood, from childhood to adulthood and throughout adulthood in 7/9 patients. Patients #12 is the unique patient with muscular involvement, which may explain the worsening of the SDFS score with time. The neurological status of patient #13 worsened after a SLE, and then partially recovered. Bottom right subpanel: brain MR images of patient #5 showed vermian atrophy (A, T1-weighted image) and stroke-like lesions of the occipital lobe during the episode (B, FLAIR sequence). These images were attenuated one week after (C) the episode and no longer visible seven weeks later (D).

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