Atypical neurological symptoms associated with CGG expansions of the FMR1 gene

Figure 1 Pedigree structure of the patient 1 (arrow), they were 12 brothers and sisters, only those relevant are shown. Fragile X mental retardation (FMR1) CGG expanded alleles carriers are denoted as a grey filled symbol, they did not show any neurological disorder. Black filled symbols denote FMR1 CGG full mutation carriers affected by fragile X syndrome with mental retardation. Crossed symbol indicates deceased family members. Circle indicates females and square males.

Figure 2 T2, TIR and FLAIR magnetic resonance imaging of the patient 1, it does not show abnormal findings. FLAIR: Fluid attenuated inversion recovery.

Figure 3 [¹²³I]FP-CIT DAT SCAN of the patient 1, it shows an asymmetric decrease of the striatum tracer uptake more marked on the left side.

Figure 4 Cranial computed tomography of the patient 2, it does not show relevant findings.

Figure 5 [¹²³I]FP-CIT DAT SCAN of the patient 2, it shows a symmetric and normal tracer uptake.