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Table 2: 
Brain imaging characteristics of 8 patients with GJA1 variantsa
Patient 1Patient 2Patient 3Patient 4Patient 5Patient 6Patient 7Patient 8
Age (yr)/disability stage64/134/325/349/322/119/149/656/1
WM T1 signal (relative to the cortex gray matter)IsoHyperHyperIsoIsoHyperIsoHyper
WM T2-hyperintense signal
    Periventricular−++++++++++
    Internal capsule (posterior limb)++++++/−++
    Corpus callosum−−−+−+−−
    Cerebellar peduncles−+++++−+
    Ventral pons−+−+−−−+
Globus pallidus
    Hypointensity on T2*-/susceptibility- weighted imagingND++++++/−++++
    Eye of the tiger−−−+−−−−
    CalcificationsND−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.