ArticleNeurology2016
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.
Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 43 citations in OpenAlex.
- Pericyte KNature cardiovascular research · 2026Article
- Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations.Function (Oxford, England) · 2024Article
- Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.BMC pediatrics · 2023Review
- Personalized Therapeutics for KAnnual review of pharmacology and toxicology · 2023Review
- A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.Journal of the American Heart Association · 2022Article
- Kir6.1 and SUR2B in Cantú syndrome.American journal of physiology. Cell physiology · 2022Review
- Limbic-Predominant Age-Related TDP-43 Encephalopathy: Medical and Pathologic Factors Associated With Comorbid Hippocampal Sclerosis.Neurology · 2022Article
- Large-conductance calcium-activated KBritish journal of pharmacology · 2021Article
- Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study.Acta neuropathologica communications · 2021Article
- Behavioral and cognitive functioning in individuals with Cantú syndrome.American journal of medical genetics. Part A · 2021Article
- Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.Cells · 2021Article
- Young adult with Cantú syndrome: dealing with a rare genetic skin disorder.BMJ case reports · 2021Article
- Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice.JCI insight · 2021Article
- Three-dimensional facial morphology in Cantú syndrome.American journal of medical genetics. Part A · 2020Article
- Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome.Frontiers in pharmacology · 2020Article
- The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome.Function (Oxford, England) · 2020Article
- Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Article
- ABCC9-related Intellectual disability Myopathy Syndrome is a KNature communications · 2019Article
- Pulmonary Hypertension and ATP-Sensitive Potassium Channels.Hypertension (Dallas, Tex. : 1979) · 2019Review
- Kir6.2, the Pore-Forming Subunit of ATP-Sensitive KJournal of neurotrauma · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo describe the neurologic and neuroimaging manifestations associated with Cantú syndrome.
methodsWe evaluated 10 patients with genetically confirmed Cantú syndrome. All adult patients, and pediatric patients who were able to cooperate and complete the studies, underwent neuroimaging, including vascular imaging. A salient neurologic history and examination was obtained for all patients.
resultsWe observed diffusely dilated and tortuous cerebral blood vessels in all patients who underwent vascular imaging. White matter changes were observed in all patients who completed an MRI brain study. Two patients had a persistent trigeminal artery. One patient had an occluded right middle cerebral artery. One patient had transient white matter changes suggestive of posterior reversible encephalopathic syndrome. Four patients had migraines with one patient having complicated migraines. Seizures were seen in early life but infrequent. The majority of patients had mild developmental delays and one patient had a diagnosis of autism.
conclusionsCantú syndrome is associated with various neurologic manifestations, particularly cerebrovascular findings including dilated and tortuous cerebral vessels, white matter changes, and persistent fetal circulation. Involvement of the KATP SUR2/Kir6.1 subtype potentially plays an important role in the neurologic manifestations of Cantú syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.