ArticleJournal of inherited metabolic disease2016
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).
Article in Journal of inherited metabolic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07685314 (LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS), which is not on this map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Late-onset pompe disease and cerebrovascular manifestations
Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- A roadmap for a patient-centred approach to Pompe disease management.Journal of neurology · 2026Review
- Changes of Basilar Artery in Patients With Migraine: A Case-Control Study Based on 3T MRI.Brain and behavior · 2025Article
- Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.European journal of neurology · 2025Article
- Neglected outcomes of cerebrovascular disorders in neuromuscular diseases.European journal of neurology · 2025Article
- Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.Orphanet journal of rare diseases · 2024Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Vertebrobasilar artery elongation in migraine-a retrospective cross-sectional study.Acta neurologica Belgica · 2023Article
- Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.Current treatment options in neurology · 2022Article
- Is the brain involved in patients with late-onset Pompe disease?Journal of inherited metabolic disease · 2022Article
- A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.Journal of neuromuscular diseases · 2022Review
- New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.Journal of clinical medicine · 2021Article
- Prevalence and Clinical Correlates of Intracranial Dolichoectasia in Individuals With Ischemic Stroke.Stroke · 2021Article
- Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Association between Intracranial Arterial Dolichoectasia and Cerebral Small Vessel Disease and Its Underlying Mechanisms.Journal of stroke · 2020Review
- Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.Orphanet journal of rare diseases · 2020Article
- Advancements in AAV-mediated Gene Therapy for Pompe Disease.Journal of neuromuscular diseases · 2020Review
- Response: Late-onset Pompe disease manifests in the brain.Molecular genetics and metabolism reports · 2019Article
- Renal artery fibromuscular dysplasia in Pompe disease: A case report.Molecular genetics and metabolism reports · 2018Article
- NF-κB-Mediated Inflammation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. Does Autophagy Play a Role?International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesPompe disease is a rare metabolic disorder due to lysosomal alpha-glucosidase (GAA) deficiency. It is considered as a multi-systemic disease since, although glycogen accumulation is largely prominent in heart, skeletal and respiratory muscles, other organs can also be affected. As regards the vascular system, few reports have documented cerebrovascular malformations in Pompe patients. The aim of this study was to define the presence and type of intracranial arterial abnormalities in a cohort of late onset Pompe disease (LOPD) patients.
methodsWe have studied 21 LOPD patients with cerebral CT angiography (CTA), using maximum intensity projection and volume rendering technique for 3D-image reconstruction.
resultsWe found intracranial arterial abnormalities in 13/21 patients (62 %), of whom: 2/21 patients (9.5 %) showed an unruptured intracranial aneurysm (respectively 2 and 4 mm), 10/21 (47 %) had a vertebrobasilar dolichoectasia (VBD) and 1/21 a basilar artery fenestration. Signs of lacunar encephalopathy (insular, capsular and frontal subcortical lesions) were detected in 13/21 patients (62 %) and this correlated with the presence of respiratory impairment (p = 0.017).
conclusionsThese findings differ from what has been previously observed in healthy, aged-matched populations and confirm that cerebral arteries abnormalities, mainly involving the posterior circle, are not so rare in LOPD patients and are often accompanied by a lacunar encephalopathy that might represent a hypoxic-ischemic origin. A CTA or an MRA is recommended, in LOPD patients, for early detection of cerebrovascular malformations as they could lead to life-threatening events such as sub-arachnoid haemorrhage or brainstem compression.
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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.