Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pontine autosomal dominant microangiopathy with leukoencephalopathy in a Hispanic man without a family history.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Sept 2026

Shah Ashna, Hussain Uzma, Ekpruke Cynthia, Bagh Rose P, Ayub Muhammad, Blackburn Kyle, Shang Ty

Abstract excerpt

OBJECTIVE: To describe a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL), a rare COL4A1-related cerebral small vessel disease, in a Hispanic man with atypical clinical and radiographic features that posed diagnostic challenges. METHODS: Case report and literature review. RESULTS: A 49-year-old Hispanic man of Mexican ancestry without a family history or conventional...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3' Untranslated Regions
Share to Cerebral Small Vessel Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type IV

Share to Genetic Predisposition to Disease

Share to Leukoencephalopathies

Share to Magnetic Resonance Imaging

Share to Mexican Americans

Source

Identifiers

PMID: 42437605
DOI: 10.1016/j.jstrokecerebrovasdis.2026.108700

Genes

COL4A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pontine autosomal dominant microangiopathy with leukoencephalopathy in a Hispanic man without a family history.PMID 42437605Read ↗

A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.Semantic proximity Read ↗

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

Recurrent Pontine Strokes in a Young Male.Semantic proximity Read ↗

COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.Semantic proximity Read ↗

Hereditary cerebral small vessel diseases: a review.Semantic proximity Read ↗

Main features of COL4A1-COL4A2 related cerebral microangiopathiesSemantic proximity Read ↗

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).Semantic proximity Read ↗

Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.Semantic proximity Read ↗

Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review.Semantic proximity Read ↗

Late-Onset COL4A1 Mutation with Recurrent Ischemic and Hemorrhagic Strokes.Semantic proximity Read ↗

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.Semantic proximity Read ↗

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.