Article Figures & Data
Figures
- Figure 1 Schematic representation of FOXG1 gene, protein domain structure, and positions of FOXG1 mutations
(A) Schematic representation of FOXG1 gene and (B) FOXG1 protein domain structure and positions of the variations identified: N-terminal domain; FBD domain (forkhead DNA binding domain, amino acids 181–275), GBD domain (Groucho binding domain, amino acids 307–317), JBD domain (JARID1B binding domain, amino acids 383–406), and C-terminal domain are indicated. Mutations are located all along the FOXG1 gene, within different protein domains. Missense mutations are predominantly located in the FBD (91.7%), whereas frameshift mutations are more prominent in the N-terminal domain (57.1%). The novel variants described in this article are highlighted in bold and the recurrent variants are underlined with the corresponding number of recurrences indicated in brackets. FBD = forkhead binding domain; GBD = Groucho binding domain; JBD = JARID1B binding domain.
- Figure 2 Representative MRI of pachygyric frontal cortex in FOXG1 patients
Representative images at the level of centrum semiovale in axial T1-weighted (A, E, I) and T2-weighted (B, F, J) MRI, at the level of lateral ventricles (third column) and midline sagittal (right column). Each row shows images from the same patient respectively: (A–D) Str02 aged 19 months; (E–H) Ang01 aged 23 months; (I–L) Rou01, aged 34 months. The cortex appears mildly thick with a clear predominance in the frontal lobes. The appearance of pachygyria is accentuated by the underdevelopment of frontal lobes. T2-weighted (C, G, K) MRI at the level of the internal capsule showing associated myelination delay, with mature myelin only visible in both internal capsules (G and K). T1-weighted midline sagittal sections showing the wide range of appearance of the corpus callosum, from hypoplastic and thin (D, L) to thick with underdevelopment of the genu (H).
- Figure 3 Changing appearance of the frontal cortex with age associated with increasing myelination
Representative images from 2 patients: Im11 p.Gln86Profs*35 (A–D) and Im09 p.Glu154Glyfs*301 (E–H). (A and B) Images obtained when the patient was 6 months old. T2-weighted image (A) shows normal thickness of both frontal lobes but delayed myelination. T1-weighted image (B) shows a pachygyric cortex in the same region. (C and D) Images obtained when the patient was 2 years 6 months. T2-weighted image (C) of the frontal lobe shows mildly thickened cortex, probably because of the poor myelination of the subcortical white matter. (E and F) Images obtained when the patient was 1 year 8 months. In the frontal lobe, T2-weighted (E) and T1-weighted (F) images show the same pattern of pachygyric cortex and severely delayed myelination (E). (G and H) At 3 years, the T2-weighted image (G) shows significant improvement of myelination, although still delayed in the frontal subcortical region: the T1-weighted image (H) shows mildly simplified gyral pattern, with no pachygyria.
Tables
Video 1
Patient Lyo01 showing permanent esotropia, but preserved eye contact. Note the limb and orofacial dyskinesiaDownload Supplementary Video 1 via http://dx.doi.org/10.1212/000281_Video_1
Video 2
Patient Lyo01 touching musical object with his right hand and at the same time showing hand to mouth stereotypy. Note the hyperkinesia in his movement patternDownload Supplementary Video 2 via http://dx.doi.org/10.1212/000281_Video_2
Video 3
Patient Ang01 showing generalized dyskinesia and hyperkinesia. Note the dystonic posture of the upper limbDownload Supplementary Video 3 via http://dx.doi.org/10.1212/000281_Video_3
Video 4
Patient Aix01 showing generalized hyperkinetic movement disorder with choreic and myoclonic componentsDownload Supplementary Video 4 via http://dx.doi.org/10.1212/000281_Video_4
Video 5
Patient Aix01 showing excessive drooling mild orobuccal dyskinesia with generalized dyskinesia combined with choreic and myoclonic componentsDownload Supplementary Video 5 via http://dx.doi.org/10.1212/000281_Video_5
Video 6
Patient Ang01 showing intermittent hand to mouth stereotypiesDownload Supplementary Video 6 via http://dx.doi.org/10.1212/000281_Video_6
Video 7
Patient Im07 showing intermittent hand stereotypies at the midlineDownload Supplementary Video 7 via http://dx.doi.org/10.1212/000281_Video_7
Video 8
Patient Ang01 showing feeding difficulties related to orobuccal dyskinesia. Note the dystonic posture of the upper limbDownload Supplementary Video 8 via http://dx.doi.org/10.1212/000281_Video_8
Video 9
Patient Im07 showing feeding difficulties related to orobuccal dyskinesia. Note the exotropia and the permanent movement of the upper limbDownload Supplementary Video 9 via http://dx.doi.org/10.1212/000281_Video_9
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