Table 5. Neuroimaging findings in 11 patients with PLA2G6 mutations.
| Family (Patient No.) |
Scan type |
Age | Cerebellar atrophy |
Cerebellar gliosis |
Low signal/density (globus pallidus) | Low signal/density(substantia nigra) | Cerebral white matter | Corpus callosum | |
|---|---|---|---|---|---|---|---|---|---|
| F1 (P1) | MRI | 3y 1 mo | + | + | + (DWI) | + | - | - | |
| CT | 4y 2 mo | + | 1 | - | - | - | I | ||
| MRI | 4y 2 mo | + | + | + (T2, DWI) | + | - | S | ||
| F2 (P2) | MRI | 1y 3 mo | + | - | - | - | H | - | |
| F2 (P1) | MRI | 3y 3 mo | + | - | + (DWI) | - | H | - | |
| F3 (P2) | MRI | 4y 4mo | + | + | + (T2, DWI) | + | H | - | |
| F3 (P1) | MRI | 10y 4mo | + | + | + (T2, DWI) | + | H | - | |
| F4 (P1) | MRI | 2y 10mo | + | + | + (DWI) | - | - | - | |
| F5 (P1) | MRI | 4y 2mo | + | - | - | - | - | B | |
| MRI | 7y 6 mo | + | + | + (T2, DWI) | + | H | S | ||
| F6 (P3) | MRI | 17y 5mo | + | l | + (T2, DWI) | + | I | - | |
| F6 (P4) | CT | 19y | + | I | - | - | - | I | |
| F6 (P1) | MRI | 11y 4mo | + | + | + (T2) | + | I | - | |
| MRI | 21 y 3mo | + | + | + (T2) | + | H A | - | ||
| F6 (P2) | MRI | 10y 4mo | + | + | + (T2) | + | - | - | |
| MRI | 13y 3mo | + | + | + (T2) | + | - | - | ||
+
Changes present; - changes absent
A = atrophy; B = changes borderline; DWI = diffusion-weighted MRI image; H = high (mild) T2- MRI signal in cerebral white matter; I = imaging quality or type not suitable to assess feature; S = Simple splenium(posterior) corpus callosum; T2 = T2-MRI sequence.