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

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

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

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
All calcifications mentioned in the table are bilateral

ISSN: 1471-2377