The Clinical and Vascular Characteristics of RNF213 c.14576G>A Variant-Related Intracranial Major Artery Disease in China

Table 4

Clinical materials and HR-MRI findings for the mutation group.

(a)

Sample	Genotype	Sex	Age at onset	Nation	Risk factor	Blood tests	Symptomatic	First presentation	Type of first presentation	Presumed diagnosis by MRA/DSA
1	GA	F	44	Han	HT, DM, FH	Normal	N	——	——	MMD
2	GA	M	53	Han	HT, FH, smoking, drinking	Normal	Y	Headache, visual field defects, dizziness	Cerebral infarction	MMD
3	GA	M	54	Han	HT, FH, smoking, drinking	HHcy	N	——	——	ICAD
4	GA	F	45	Han	HT	Normal	N	——	——	ICAD
5	GA	F	58	Han	HT, HL	Normal	N	——	——	ICAD
6	GA	F	51	Han	HL	Normal	N	——	——	ICAD
7	GA	F	54	Han	HT	Normal	Y	Paroxysmal dysphonia and weakness of the right extremities	TIA	ICAD
8	GA	M	36	Han	HT, HL, smoking	Normal	Y	Sudden dizziness, dysphonia and blunt reaction	Cerebral infarction	ICAD
9	GA	M	50	Han	NO	Normal	N	——	——	ICAD

(b)

Sample	HR-MRI
	TOF	Outer diameter	Wall thickening pattern	Enhancement on vessels	Pattern of enhancement	Signal intensity	Collateral vascular structures	Diagnosis by HR-MRI
1	Bilateral ACA and MCA disappeared, replaced by moyamoya vessels	Shrinkage	Concentric	Y	Concentric	Homogeneous	Y	HR-MMD
2	Bilateral ACA and MCA disappeared, replaced by moyamoya vessels	Shrinkage	Concentric	Y	Concentric (eccentric enhancement on the MCA distal)	Homogeneous	Y	HR-MMD
3	Moderate stenosis in M2 of left MCA	Normal	Eccentric	Y	Eccentric	Homogeneous	N	HR-ICAD
4	Occlusion of left MCA, moderate to severe stenosis of right MCA	Shrinkage	Concentric	Y	Concentric	Homogeneous	Y	HR-MMD
5	Mild stenosis of left MCA, occlusion of right MCA	Shrinkage	Concentric	—	—	Homogeneous	Y	HR-MMD
6	Moderate stenosis of right MCA	Shrinkage	Concentric	Y	Concentric	Homogeneous	Y	HR-MMD
7	Occlusion of left MCA, mild stenosis of right MCA	Shrinkage	Concentric	—	—	Homogeneous	Y	HR-MMD
8	Severe stenosis of left MCA	Normal	Eccentric	Y	Eccentric	Homogeneous	N	HR-ICAD
9	Occlusion of left MCA	Shrinkage	Concentric	N	Concentric	Homogeneous	Y	HR-MMD

Note: F: female; M: male; HT: hypertension; HL: hyperlipidemia; DM: diabetes mellitus; FH: family history; HHcy: hyperhomocysteinemia; Y: yes; N: no.