Table 1.
Neuroradiological features of TUBA1A-associated tubulinopathy
| Clinical information | Born n (%) | Fetuses n (%) | Total n (%) |
|---|---|---|---|
| Number of reported cases | 87 (100.0) | 20 (100.0) | 107 (100.0) |
| Sex | 34f/38 m/15 ns | 7f/12 m/1 ns | 41f/50 m/16 ns |
| Abnormality of the Corpus Callosum (HP:0001273) | 82/86 (95.3) | 20/20 (100.0) | 102/106 (96.2) |
| Agenesis (HP:0001274) | 16/86 (18.6) | 16/20 (80.0) | 32/106 (30.2) |
| Partial agenesis (HP:0001338) | 14/86 (16.3) | 1/20 (5.0) | 15/106 (14.2) |
| Dysplastic (HP:0006989) | 14/86 (16.3) | 3/20 (15.0) | 17/106 (16.0) |
| Hypoplasia (HP:0002079) | 33/86 (38.4) | 0/20 (0.0) | 33/106 (31.1) |
| Partial agenesis, hypoplastic (HP:0001338, HP:0002079) | 5/86 (5.8) | 0/20 (0.0) | 5/106 (4.7) |
| Normal | 4/86 (4.7) | 0/20 (0.0) | 4/106 (4.7) |
| No information available | 1/87 (1.2) | 0/20 (0.0) | 1/107 (0.9) |
| Abnormal cortical gyration (HP:0002536) | 76/77 (98.7) | 19/19 (100.0) | 95/96 (99.0) |
| Lissencephaly (HP:0006818) | 50/77 (64.9) | 17/19 (89.5) | 67/96 (70.0) |
| Agyria (HP:0031882) | 12/77 (15.6) | 15/19 (78.9) | 27/96 (28.1) |
| Agyria-pachygyria (HP:0031882, HP:0001302) | 15/77 (19.5) | 1/19 (5.3) | 16/96 (16.7) |
| Pachygyria (HP:0001302) | 23/77 (29.9) | 1/19 (5.3) | 24/96 (25.0) |
| Polymicrogyria (HP:0002126) | 16/77 (20.8) | 2/19 (10.5) | 18/96 (18.8) |
| Perisylvian-polymicrogyria (HP:0012650) | 10/77 (13.0) | 0/20 (0.0) | 10/96 (10.4) |
| Cortical gyral simplification (HP:0009879) | 5/77 (6.5) | 0/20 (0.0) | 5/96 (5.2) |
| Unspecific | 5/77 (6.5) | 0/20 (0.0) | 5/96 (5.2) |
| Normal | 1/77 (1.3) | 0/20 (0.0) | 1/96 (1.0) |
| No information available | 10/87 (11.5) | 1/20 (5.0) | 11/107 (10.3) |
| Abnormality of the cerebellar vermis (HP:0002334) | 60/64 (93.8) | 18/18 (100.0) | 78/83 (94.0) |
| Hypoplasia (HP:0001320) | 44/64 (68.8) | 12/18 (66.7) | 56/83 (67.5) |
| Dysgenesis (HP:0002195) | 16/64 (25.0) | 6/18 (33.3) | 22/83 (26.5) |
| Normal | 5/64 (7.8) | 0/20 (0.0) | 5/83 (6.0) |
| No information available | 22/87 (25.3) | 2/20 (10.0) | 24/107 (22.4) |
| Abnormality of the basal ganglia (HP:0002134) | 50/50 (100.0) | 8/9 (88.9) | 58/59 (98.3) |
| Dysgenesis (HP:0025102) | 50/50 (100.0) | 8/9 (88.9) | 58/59 (98.3) |
| Normal | 0/50 (0.0) | 1/9 (11.1) | 1/59 (1.7) |
| No information available | 37/87 (42.5) | 11/20 (55.0) | 48/107 (44.9) |
| Abnormality of the brainstem (HP:0002363) | 39/47 (83.0) | 18/18 (100.0) | 57/65 (87.7) |
| Hypoplasia (HP:0002365) | 24/47 (51.1) | 8/18 (44.4) | 32/65 (49.2) |
| Pons hypoplasia (HP:0012110) | 6/47 (12.8) | 10/18 (55.6) | 16/65 (24.6) |
| Dysplasia (HP:0002508) | 9/47 (19.1) | 0/20 (0.0) | 9/65 (13.8) |
| Normal | 8/47 (17.0) | 0/20 (0.0) | 8/65 (12.3) |
| No information available | 40/87 (46.0) | 2/20 (10.0) | 42/107 (39.3) |
| Ventricular dilatation (HP:0002119) | 43/43 (100.0) | 6/6 (100.0) | 49/49 (100.0) |
| Fourth ventricle dilatation (HP:0002198) | 19/43 (44.2) | 1/6 (16.7) | 20/49 (40.8) |
| No information available | 44/87 (50.6) | 14/20 (70.0) | 58/107 (54.2) |
| Abnormality of the cerebellum (HP:0001317) | 22/32 (68.8) | 16/17 (94.1) | 38/49 (77.6) |
| Dysplasia (HP:0007033) | 4/32 (12.5) | 6/17 (35.3) | 10/49 (20.4) |
| Hypoplasia (HP:0001321) | 16/32 (50.0) | 10/17 (58.8) | 26/49 (53.1) |
| Agenesis (HP:0012642) | 1/32 (3.1) | 0/20 (0.0) | 1/49 (2.0) |
| Normal | 10/32 (31.3) | 1/17 (5.9) | 11/49 (22.4) |
| No information available | 55/87 (63.2) | 3/20 (15.0) | 58/107 (54.2) |
| Abnormal morphology hippocampus (HP:0025100) | 24/29 (82.8) | 5/8 (62.5) | 30/38 (78.9) |
| Hypoplasia (HP:0025517) | 6/29 (20.7) | 3/8 (37.5) | 9/38 (23.7) |
| Dysgenesis (HP:0025101) | 18/29 (62.1) | 2/8 (25.0) | 20/38 (52.6) |
| Normal | 5/29 (17.2) | 3/8 (37.5) | 8/38 (21.1) |
| No information available | 58/87 (66.7) | 12/20 (60.0) | 69/107 (64.5) |
| Abnormality of the internal capsule (HP:0012502) | 24/25 (96.0) | 1/19 (100.0) | 25/26 (96.2) |
| Anterior limb thinned or absent | 13/25 (52.0) | 0/20 (0.0) | 13/26 (50.0) |
| Normal | 1/25 (4.0) | 0/20 (0.0) | 1/26 (3.8) |
| No information available | 62/87 (71.3) | 19/20 (95.0) | 81/107 (75.7) |
| Grey matter heterotopia (HP:0002281) | 11/13 (84.6) | 14/15 (93.3) | 25/28 (89.3) |
| Olivary | 5/13 (38.5) | 6/15 (40.0) | 11/28 (39.3) |
| Absent | 2/13 (15.4) | 1/15 (6.7) | 3/28 (10.7) |
| No information available | 74/87 (85.1) | 5/20 (25.0) | 79/107 (73.8) |
| Other radiological features | 12/12 (100) | 8/8 (100.0) | 20/20 (100.0) |
| Abnormal morphology of the olfactory bulb (HP:0040327) | 2/12 (16.7) | 6/8 (75.0) | 8/20 (40.0) |
| No information available | 75/87 (86.2) | 12/20 (60.0) | 87/107 (81.3) |
F Female, M Male, N Number, N/A Not applicable, NS Not specified