Brain imaging characteristics of 8 patients with GJA1 variantsa
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | |
|---|---|---|---|---|---|---|---|---|
| Age (yr)/disability stage | 64/1 | 34/3 | 25/3 | 49/3 | 22/1 | 19/1 | 49/6 | 56/1 |
| WM T1 signal (relative to the cortex gray matter) | Iso | Hyper | Hyper | Iso | Iso | Hyper | Iso | Hyper |
| WM T2-hyperintense signal | ||||||||
| Periventricular | − | ++ | + | ++ | + | + | ++ | + |
| Internal capsule (posterior limb) | + | + | + | + | + | +/− | + | + |
| Corpus callosum | − | − | − | + | − | + | − | − |
| Cerebellar peduncles | − | + | + | + | + | + | − | + |
| Ventral pons | − | + | − | + | − | − | − | + |
| Globus pallidus | ||||||||
| Hypointensity on T2*-/susceptibility- weighted imaging | ND | ++ | + | ++ | +/− | + | ++ | + |
| Eye of the tiger | − | − | − | + | − | − | − | − |
| Calcifications | ND | − | ND | + (Unilat.) | − | − | ++ (Bilat.) | − |
| Atrophy | ||||||||
| Ventricle/subarachnoid space | +++/+++ | ++/+ | ++/+ | −/− | +/− | −/− | +++/++ | +++/+ |
| Corpus callosum | ++ | ++ | +/− | − | − | +/− | +++ | + |
| Cerebellar vermis/hemisphere | +/− | ++/+ | −/− | +/− | +/− | +/− | ++/+ | ++/+ |
Note:—Iso indicates isointense; Hyper, hyperintense; ND, not done; Unilat., unilateral; Bilat., bilateral; −, absence of abnormalities; +/−, very mild; +, mild; ++, moderate; +++, severe.
↵a Disability stage index: 1, no functional handicap but signs at examination; 3, moderate, unable to run, limited walking without aid; 6, unable to walk, requiring wheelchair.