Table 1 Neuroradiological features of TUBA1A-associated tubulinopathy

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)