Table 1.
MRI data on case-reports of AHDS patients from October 2004 to December 2019.
| References | Patients | Mutation | First MRI (age) | Sequential MRI(s) (age) |
|---|---|---|---|---|
| Dumitrescu et al. (3) | 2 | c.1212delT c.1535T>C |
Normal myelination (2 y) Normal myelination (3 y) |
N.d. N.d. |
| Holden et al. (35) | 1 | p.insI189 | Abnormal myelination (3 m) | Delayed myelination (12 m, 22 m) |
| Kakinuma et al. (36) | 1 | c.485T>C | Abnormalities in the left putamen (3 y) | Progressive atrophy of WM (6 y) |
| Schwartz et al. (37) | 1 | c.703G>A | Normal myelination (13 y) | N.d. |
| Namba et al. (38) | 1 | c.1649delA | Extensive myelination delay (11 m) | Myelination proceeds slowly (4 y 2 m) |
| Papadimitriou et al. (39) | 1 | p.P537L | Delayed myelination of subcortical WM and thalamus (11 m) | N.d. |
| Sijens et al. (40) | 1 | c.1690G>A | WM hypoplasia, small CC (8 m) | WM hypoplasia, but local improvements (28 m) |
| 1 | p.delF501 | WM hypoplasia, small CC (10 m) | Myelination near normal (17 m) | |
| Fuchs et al. (41) | 1 | c.812G>A | Infarction in left putamen, but normal WM (6 m) | N.d. |
| Vaurs-Barrière et al. (42) | 1 1 1 1 1 |
Del exons 2-3-4 “ c.661G>A “ c.1558C>T |
Normal myelination (10 y) Diffuse hypomyelination (4 y) Diffuse hypomyelination (6 y) Diffuse hypomyelination (1 y) Diffuse hypomyelination (6 m) |
N.d. N.d N.d N.d Progressive improvement, but hypomyelinated periventricular tracts (5 y) |
| 1 | c.1003C>T | Diffuse hypomyelination (14 m) | Normal myelination (10 y) | |
| 1 | c.962C>T | Abnormal myelination (13 m) | N.d. | |
| 1 | c.1826delC | Diffuse hypomyelination (5 y) | Diffuse hypomyelination (7 y) | |
| Boccone et al. (43) | 1 | c.1343_1344insGCCC | Delayed myelination of semioval centers, normal spinal cord (5 y) | N.d. |
| Gika et al. (44) | 1 | Del exons 2-6 | Marked myelination delay (21 m) | Myelination gradually improved but some delay was still present (30 m, 4 y) |
| 1 | c.1306delT | Significant myelination delay (2 y, 9 m) | Little progression of myelination (3 y 7 m) | |
| 1 | c.683-5delTCT | Significant myelination delay (3 y, 9 m) | N.d. | |
| 2 | c.962C>T | Significant myelination delay in the genu and anterior limb of internalcapsule (in both cases at 9 m) | N.d. | |
| Crushell and Reardon (45) | 1 | c.1614dupC | Delayed myelination, small CC (23 m) | N.d. |
| Tsurusaki et al. (46) | 1 1 |
c.1102A>T | Delayed myelination (2 y) Normal myelination (8 y) |
Normal myelination (13 y) N.d. |
| Zung et al. (47) | 1 | Del exons 2-6 | Delayed WM myelination, small CC (6 m) | N.d. |
| Tonduti et al. (48) | 1 1 1 |
c.1412T>C “ c.656G>A |
Delayed myelination (20 m) Delayed myelination (11 m) Considered normal (4 m) |
Almost normal myelination (5 y 6 m) N.d. Slow progression but still delayed WM myelination (2, 3, 4 y) |
| Boccone et al. (49) | 2 | c.670G>A | Generalized delayed myelination (3 y) Normal myelination (36 y) |
N.d. N.d. |
| Azzolini et al. (34) | 1 | c.1251_1252insG | Normal Myelination (14 m) | N.d. |
| Anik et al. (50) | 2 | Del exons 3-4 | Relatively normal myelination (6 m) Delayed myelination (6 y) |
N.d. N.d. |
| Kobayashi et al. (51) | 1 1 |
c.1621G>T “ |
Delayed myelination (26 y) Delayed myelination (13 y) |
N.d. Some progression, but still immature myelination, cerebral WM atrophy (18 y) |
| 1 | “ | Delayed myelination (3 y) | N.d. | |
| 1 | “ | Delayed myelination (11 y) | N.d. | |
| López-Espíndola et al. (52) | 1 1 |
p.L494P p.Q96X |
Low or absent brain MBP signal (GW 30)* Pale MBP staining, delayed myelination (11 y)* |
N.d.* N.d.* |
| Rodrigues et al. (53) | 1 | c.735_760dup | Delayed myelination (2 y) | N.d. |
| Yamamoto et al. (54) | 1 1 |
c.1390_1392delCCC c.97T>C & c.449C>T |
Marked myelination delay (7 m) No marked abnormalities (8 m) |
N.d. Delayed myelination (17 m) |
| Armour et al. (55) | 1 1 |
c.869C>T | Delayed myelination (23 m) Delayed myelination, small CC (9 m) |
Normal myelination (10 y 10 m) N.d. |
| Gagliardi et al. (56) | 1 | c.652+1G>A | Delayed myelination (5 y) | N.d. |
| Kim et al. (57) | 1 | c.671C>T | Hypomyelination & decreased periventricular WM volume (9 m) | N.d. |
| La Piana et al. (58) | 1 | p.L291R | Significant myelination delay (7 m) | Mild progression (14, 26 m) |
| Matheus et al. (59) | 5 | N.d. | Delayed myelination, diffuse regions with more pronounced hypomyelination (8 m) | Progression to normal myelination in CC and corticospinal tracts in 3/5 cases (1, 2, 5, 5, 7 y&), but micro-abnormalities in other WM tracts remained in all cases N.d. |
| 1 | N.d. | Delayed myelination (2 y) | ||
| Bedoyan et al. (60) | 2 | c.321_322delTG | Delayed myelination, smaller CC (9 m)Delayed myelination, smaller CC (1 y) | N.d.N.d. |
| Charzewska et al. (31) | 1 | c.940C>T | Diffuse hypomyelination (20 m) | Strong improvement, except for periventricular WM tracts (6 y 1 m) |
| Ono et al. (61) | 111 | c.1333C>Ac.587G>Ac.1063_1064insCTACC | Delayed myelination (1 y)Delayed myelination (1 y 7 m)Delayed myelination (20 m, 3 y) | Normal myelination (8 y)Normal myelination (20 y)Normal myelination (21 y) |
| Shimojima et al. (62) | 11 | c.365G>Tc.661G>A | Delayed myelination (2 y 6 m)Marked hypomyelination (6 m) | Normal myelination (6 y)N.d. |
| Novara et al. (63) | 111 | c.812G>Ac.1690G>Ac.1691G>A | Delayed myelination (2 y)Moderate myelination delay, small CC (2 y) Normal myelination (8 y) |
N.d.N.d.N.d. |
| Rego et al. (64) | 1 | c.1384G>A | Normal myelination (11 m) | Marked cerebral and cerebellar myelination delay (3 y) |
| Masnada et al. (65) | 11 | c.715A>Cc.1625T>C | Normal myelination (29 y)Delayed myelination (12 m) | N.d.Normal myelination (4 y 6 m, 7 y) |
| Remerand et al. (32)+ | 12 | c.1621+2T>C c.1333C>T c.277C>T Del exons 2-3-5-6c.608T>C c.1412T>G c.1393-1G>C c.373InsCT c.1690G>A c.812G>A c.1406T>C c.1412T>C |
Hypomyelination# | Myelination improvement in 12/19 cases, periventricular WM abnormalities in 4/12 (2 y 1 m – 14 y 5 m) |
| 5 | Del exon 1 c.575A>G c.811C>A c.1621+2T>C c.1321T>C |
Hypomyelination# | No improvement in 5/17 cases (6 m – 12 y 1 m) | |
| 12 | c.1412T>C c.1202G>A c.1691G>A |
Hypomyelination (11 m)Normal myelination# | N.d.Normal myelination (8 y) Normal myelination (13 y 6 m) |
We only provide patients in which the myelin status has been described, his/her age at MRI, and the corresponding gene mutation. When the latter was not available, we gave the protein mutation. CC, corpus callosum; GW, gestational week; m, months; MBP, myelin basic protein; N.d., not determined; WM, white matter; y, years.
*
Post mortem study;
#
No data on the age of examination;
&
Age at last MRI;
+
Unclear for 4/24 cases whether improvement was seen or not, and therefore not taken up in the table.