Table 5.

Neurovascular findings.

Abnormality	Author	Brief Description of Studya
Stroke	Bellenguez et al. [14]	GWAS of ischemic stroke with 3548 affected patients and 5972 controls. Replicated association between cardioembolic stroke and variants close to PITX2.
	French et al. [4]	GWAS of 9361 patients with FOXC1 mutation found 18 patients with cerebral small vessel disease (CSVD), defined as white matter hyperintensities, dilated perivascular spaces, microbleeds, and lacunar infarcts. Case series found 9 PITX2-attributable ARS patients had white matter hyperintensities and CSVD, independent of atrial fibrillation or other cardiac abnormalities.
	Nandeesh et al. [47]	Case study of 18yo girl with COL4A1 and bilateral Axenfeld Rieger who had hemorrhagic stroke, microhemorrhages, right vertebral dolichoectasia, periventricular white matter changes, and a porencephalic cyst. On histology, found thickening of small-caliber blood vessels and disruption of basement membrane. No cardiac abnormalities.
	Zhao et al. [11]	GWAS of 476 stroke patients and 501 controls found single nucleotide polymorphisms in PITX2 were associated with increased stroke risk.
Other Neurovascular Findings	Kearns et al. [31]	Case series of 2 siblings with 6p25 deletion had intracranial vascular dolichoectasia, which were not thought to be associated until this study. No cardiac abnormalities.
	Wu et al. [43]	Case series of 11 patients with FOXC1 mutations found AVM in one patient with Axenfeld Rieger anomaly. No cardiac abnormalities.

^aGWAS = genome-wide association studies, PITX2 = pituitary homeobox 2, FOXC1 = forkhead box protein C1, CSVD = cerebral small vessel disease, ARS = Axenfeld Rieger Syndrome, COL4A1 = Collagen type IV alpha 1, AVM = arteriovenous malformation.