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Table 1 Clinical features and imaging findings of family members heterozygous for the PDGFRB sequence variant

From: A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

Patient Age at onset of clinical symptoms, years Age at evaluation, years Clinical features CT scan MRI
II:2 NA 74 TIA
Atrial fibrillation
Decreased vibratory sensation
ND Leukoaraiosis
III:1 54 56 Anxiety
Paresthesia
Tendency to cramp in feet.
Congenital ASD
Basal ganglia, cerebellum, distinct periventricular leukoaraiosis. Pa, Pu, T, D
Diffuse white matter lesions at temporal horns, corona radiata, centrum semiovale, subcortical and periventricular consistent with chronic ischemia
III:2 49 56 Paresthesia
Sore muscles
Congenital ASD
Basal ganglia, cerebellum, distinct leukoaraiosis WM lesions in both cerebral hemispheres and brain stem
III:3 48 48 Epilepsy
Transient dizziness and hemiparesis
Basal ganglia and cerebellar areas ND
III:4   52 None Ca, lentiformis, D ND
  1. Abbreviations: NA = not applicable, ND = not done, Ca = caudate calcifications, D = dentate calcifications, Pa = globus pallidus calcifications, Pu = putamen calcifications, T = thalamic calcifications; TIA = transient ischemic attack
  2. All calcifications mentioned in the table are bilateral