Article Figures & Data
Figures
- Fig 1.
Axial scans of patients 8 (A–C) and 7 (E and F) show isointense-to-mild hyperintense T1-weighted signal (A and E) associated with mild-to-moderate hyperintense T2- (B and F) and FLAIR-weighted (C) signal of the white matter, especially the internal capsules (arrows) and optic radiations (arrowheads). Sagittal T1-weighted image of patient 8 (D) shows atrophy of the corpus callosum and the vermis. T2-weighted images of patients 2 (G) and 4 (H) show mild hyperintense signal of the corticospinal tract in the ventral pons (arrows) and cerebellar peduncles (arrowheads).
- Fig 2.
Basal ganglia abnormalities of patients 4 (A–C) and 7 (D–F). Axial T2- (A and D) and magnetic susceptibility- (B and E) weighted images show bilateral hypointensities of the pallidum (arrows) and the eye of the-tiger sign (arrowhead). Axial CT scans (C and F) show unilateral (C) and bilateral (F) calcifications.
Tables
Patient 1# Patient 2# Patient 3 Patient 4* Patient 5* Patient 6* Patient 7 Patient 8 Sex/age at examination (yr) Male/64 Female/34 Female/25 Female/49 Female/22 Female/19 Female/49 Male/56 Family history Dominant Dominant None Dominant Dominant Dominant None Dominant ODDD dysmorphia Yes Yes Yes Yes Yes Yes Yes Yes Age (yr)/symptom at onset 50/Gait 28/Gait 18/Urinary 14/Urinary 14/Urinary 16/Urinary 15/Gait 50/Gait Current disability stage 1 3 3 3 1 1 6 1 LL reduced strength None Prox. Prox. Prox. None None Prox./dist. None LL spasticity Yes Yes Yes Yes No No Yes Yes UL/LL reflexes ↑/↑ ↑/↑ ↑/↑ ↑/↑ ↑/↑ ↑/↑ ↑/↑ ↑/↑ Plantar reflexes Indifferent Extensor Extensor Extensor Extensor Extensor Extensor Extensor UL/LL vibration sense N/↓ N/↓ N/↓ ↓/↓ N/N N/N N/↓ N/↓ Romberg sign No Yes Yes No No No Yes No Oculomotor signs Hypermetric saccades Saccadic pursuit None Saccadic pursuit Hypermetric saccades None None Saccadic pursuit Dysmetria/dysarthria Yes/No Yes/No No/No Yes/No Yes/No No/No No/No No/No Urinary symptoms No + +++ +++ ++ ++ ++ No Cognition Dysexec. Normal Normal Normal Normal Normal Normal Normal GJA1 variant c.93T>G c.93T>G c.443G>A c.428G>A c.428G>A c.428G>A c.412G>A c.634T>A Amino acid change p.I31M p.I31M p.R148Q p.G143D p.G143D p.G143D p.G138S p.F212I Note:—* and # indicate patients belonging to the same family; UL, upper limbs; LL, lower limbs; Prox., proximal; dist., distal; ↑, increased; ↓, decreased; Dysexec., dysexecutive syndrome; N, normal; +, 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.
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.
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