ReviewInsights into imaging2018
Neuroimaging in Fabry disease: current knowledge and future directions.
Review in Insights into imaging, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Fabry disease and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Increased Risk of Injury in Patients with Fabry Disease: A Nationwide Population-Based Cohort Study in Taiwan.International journal of medical sciences · 2026Article
- Magnetic resonance imaging morphological features of the cisternal segment of the trigeminal nerve in Fabry disease.Neuroradiology · 2026Article
- Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.Neurological research and practice · 2025Article
- Clinical outcomes in Fabry patients switching to agalsidase beta for renal ineffectiveness of the primary Fabry therapy: a single-centre analysis.Clinical kidney journal · 2025Article
- Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort.European journal of neurology · 2025Article
- Recent developments in translational imaging of in vivo gene therapy outcomes.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Exome sequencing of a Portuguese cohort of early-onset Alzheimer's disease implicates the X-linked lysosomal gene GLA.Scientific reports · 2025Article
- Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease.AJNR. American journal of neuroradiology · 2024Article
- In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry.Neuroradiology · 2024Article
- Review
- Assessing brain involvement in Fabry disease with deep learning and the brain-age paradigm.Human brain mapping · 2024Article
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Observational
- Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse.International journal of molecular sciences · 2023Review
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- Volume mismatch indicates tumors in paramedial bithalamic diseases: a retrospective study.Frontiers in neurology · 2023Article
- Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?Biomedicines · 2022Review
- Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis.Neurology international · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a rare X-linked disorder characterised by abnormal progressive lysosomal deposition of globotriaosylceramide in a large variety of cell types. The central nervous system (CNS) is often involved in FD, with a wide spectrum of manifestations ranging from mild symptoms to more severe courses related to acute cerebrovascular events. In this review we present the current knowledge on brain imaging for this condition, with a comprehensive and critical description of its most common neuroradiological imaging findings. Moreover, we report results from studies that investigated brain physiopathology underlying this disorder by using advanced imaging techniques, suggesting possible future directions to further explore CNS involvement in FD patients. TEACHING POINTS: • Conventional neuroradiological findings in FD are aspecific. • White matter hyperintensities represent the more consistent brain imaging feature of FD • Abnormalities of the vasculature wall of posterior circulation are also consistent features. • The pulvinar sign is not reliable as a finding pathognomonic for FD. • Advanced imaging techniques have increased our knowledge about brain involvement in FD.
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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.