Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke

ConclusionOur results allow an early diagnosis of PADMAL based on cranial MRI, clinical signs, and confirmatory sequencing of theCOL4A1 miRNA-29-binding site.COL4A1 miRNA-29-binding site variants do not contribute to a sizeable proportion of sporadic stroke.
Source: Journal of Neurology - Category: Neurology Source Type: research