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

Jessica RoosStefanie MüllerAnne GieseSilke AppenzellerErich Bernd RingelsteinJens FiehlerKlaus BergerArndt RolfsChristian HagelGregor Kuhlenbäumer

Published in: Journal of neurology (2023)

Our results allow an early diagnosis of PADMAL based on cranial MRI, clinical signs, and confirmatory sequencing of the COL4A1 miRNA-29-binding site. COL4A1 miRNA-29-binding site variants do not contribute to a sizeable proportion of sporadic stroke.

Keyphrases

copy number
atrial fibrillation
late onset
amyotrophic lateral sclerosis
genome wide
single cell
cerebral ischemia
diffusion weighted imaging
gene expression
transcription factor
brain injury
subarachnoid hemorrhage