ArticleJournal of neurology2023
Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke.
Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Stratification of Phenotypes in Childhood-OnsetNeurology. Genetics · 2026Article
- Cerebral small vessel disease associated with COL4A1 and COL4A2 duplication: clinical and MRI features resembling CADASIL.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- A patient with pontine autosomal dominant microangiopathy and leukoencephalopathy caused by a de novo 3' untranslated region mutation of COL4A1 gene: case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?Current opinion in psychiatry · 2025Review
- Recent Advances in Stroke Genetics-Unraveling the Complexity of Cerebral Infarction: A Brief Review.Genes · 2025Review
Corrections and comments
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Authors and funding
10 authors.
Funding
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Abstract
background(1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients. PATIENTS AND
methodsSanger sequencing of the COL4A1 miRNA-binding site in the PADMAL family and 874 sporadic stroke patients.
resultsPADMAL shows adult-onset usually between 30 and 50 years of age with initial brainstem-related symptoms most commonly dysarthria, with progression to dementia and tetraparesis. Radiologically pontine lacunes are followed by supratentorial white matter involvement. Radiological onset may precede clinical symptoms. We found no variants in the COL4A1 miRNA-binding site of sporadic stroke patients.
conclusionOur 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.
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