Table 4.
Neurological findings.
| Structural Neurological Finding | Number of Papers | Associated Genes (number of occurrences)a | Studies |
|---|---|---|---|
| White Matter Abnormalities (Including white matter hyperintensities, leukoencephalopathy, periventricular white matter lesions on cranial imaging) | 26 | 6p25/FOXC1(18), COL4A1 (7), 5p15(1), 17q25(1), PITX2 (1), 7q33-q36 (1) | [3,4,6,[15], [16], [17],[20], [21], [22],25,27,28,[30], [31], [32],[34], [35], [36],39,41,42,[46], [47], [48], [49], [50],57] |
| Dandy-Walker Complex | 12 | 6p25/FOXC1(9), 5p15(1), 15q26(1), PITX2(1) | [13,15,17,18,22,25,26,29,31,40,41,44] |
| Agenesis/Hypoplasia of The Corpus Callosum | 11 | 6p25/FOXC1(9), 4p16-p15(1), Xp22(2), 5p15(1) | [15,17,22,24,25,29,31,36,40,45,51] |
| Ventriculomegaly (W/O Explicit Mention of Hydrocephalus) | 11 | 6p25/FOXC1(8), 17q25(1), 15q26(1), 6q27(1), COL4A1(1) | [20,23,25,26,31,40,41,44,45,48,63] |
| Hydrocephalus | 9 | 6p25/FOXC1 (6) | [24,26,29,33,36,37,61,66,68] |
| Optic Disc/Nerve Abnormality (Not Secondary to Glaucoma) | 7 | 6p25/FOXC1(3), 17q25(1), PITX2(1) | [12,20,26,45,56,60,64] |
| Microcephaly | 6 | 6p25/FOXC1(3), COL4A1(2), PITX2(1) | [12,38,45,50,67,69] |
| Brain Atrophy | 6 | 6p25/FOXC1(4), 21q22(1), COL4A1(1) | [21,23,24,45,48,54] |
| Macrocephaly/Enlarged Subarachnoid Spaces | 5 | 6p25/FOXC1(3), 15q26(1), BMP4(1) | [19,24,44,53,66] |
| Synostosis | 5 | 6p25/FOXC1(1), FGFR2(1), 6p24(1) | [6,24,45,52,65] |
| Stroke | 4 | 6p25/FOXC1(1), COL4A1(1), PITX2(2) | [4,11,14,47] |
| Gyral Abnormalities | 4 | 6p25/FOXC1(4), 5p15(1), 7q33-q36(1) | [17,19,26,27] |
| Calcifications | 4 | 6p25/FOXC1(2), COL4A1(1) | [28,35,48,61] |
| Skull Variations | 4 | PITX2(1) | [6,13,59,62] |
| Intracranial Hemorrhage/Microhemorrhage | 3 | COL4A1 (3) | [3,47,48] |
| Brainstem Agenesis/Hypoplasia | 3 | 6p25/FOXC1(3), 5p15(1) | [17,29,36] |
| Dilated Virchow-Robin Spaces | 3 | 6p25/FOXC1(3) | [4,22,31] |
| Aprosencephaly/Porencephaly | 2 | COL4A1(1) | [47,55] |
| Suprasellar/Parasellar Arachnoid Cyst | 2 | Not reported | [2,58] |
| Cerebellar Hypoplasia | 2 | 6p25/FOXC1(2) | [36,45] |
| Other Neurovascular Findings | 3 | 6p25/FOXC1(2), COL4A1(1) | [31,43,47] |
| Other | 14 | See Table 2 | [2,4,15,22,27,28,34,42,45,47,52,63,65,69] |
a
FOXC1 = forkhead box protein C1, COL4A1 = collagen type IV alpha 1, PITX2 = pituitary homeobox 2, FGFR = fibroblast growth factor receptor, BMP4 = bone morphogenetic protein 4.