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Table 1 Neuroradiological features of TUBA1A-associated tubulinopathy

From: The mutational and phenotypic spectrum 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)
  1. F Female, M Male, N Number, N/A Not applicable, NS Not specified