Table 1.
Brain MRI Features in Affected Individuals with LAMA1 Mutations
| CA0035 | UW154-3 | UW162-3 | UW160-4 | UW163-3 | UW163-4 | |
|---|---|---|---|---|---|---|
| cDNA mutation 1 | c.588+2T>G | c.6345+3G>C (maternal) | c.7965−15_7965−3del (paternal) | c.6701delC (paternal) | c.2816_2817delAT (paternal) | c.2816_2817delAT (paternal) |
| Protein alteration 1 | canonical splice | splice | splice | p.Pro2334Leufs9∗ | p.Tyr939Leufs27∗ | p.Tyr939Leufs27∗ |
| cDNA mutation 2 | c.588+2T>G | deletion of exons 4–11 (paternal) | c.2988_2989delA (maternal) | c.8557−1G>C, c.768+1G>A (maternal) | c.555T>G (maternal) | c.555T>G (maternal) |
| Protein alteration 2 | canonical splice | NA | p.Pro996Hisfs28∗ | splice, splice | p.Tyr185∗ | p.Thr185∗ |
| Age at MRI | 8 months | 5 and 15 months | 9 months | unknown | 25 months | 5 months |
| Cerebellar dysplasia | yes | yes | yes | yes | superior only | superior only |
| Cerebellar cysts | yes | yes | yes | yes | no | no |
| Vermis hypoplasia | global | global | global | global | inferior only | inferior only |
| SCPs | elevated and splayed | elevated and splayed | normal | elevated and splayed | normal | slightly elevated |
| Fourth ventricle | enlarged | enlarged | enlarged | enlarged | mildly enlarged | normal |
| Brainstem | short pons, thin isthmus | short pons, long midbrain, mildly enlarged tectum | normal | thin isthmus | mass effect from arachnoid cyst | normal |
| Ventricles | normal | moderate VM, partial agenesis of CC and SP | normal | normal | normal | normal |
| Eyes | large | large | large | large | normal | large |
| Increased T2/FLAIR in white matter | patchy increased, periventricular | patchy increased, periventricular | normal | normal | patchy increased, periventricular | normal |
| Other | heterotopia in right lateral ventricle | NA | NA | NA | suprasellar and interpeduncular cyst | NA |
Abbreviations are as follows: CC, corpus callosum; NA, not applicable; SCP, superior cerebellar peduncle; SP, septum pellucidum; and VM, ventricuolmegaly.