ArticleBrain and behavior2018
Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis.
Article in Brain and behavior, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.Neurological research and practice · 2025Article
- Article
- Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.Molecular genetics & genomic medicine · 2024Article
- In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry.Neuroradiology · 2024Article
- The central vein sign helps in differentiating multiple sclerosis from its mimickers: lessons from Fabry disease.European radiology · 2022Article
- Neuroradiological differentiation of white matter lesions in patients with multiple sclerosis and Fabry disease.Orphanet journal of rare diseases · 2022Article
- Structural disconnection and functional reorganization in Fabry disease: a multimodal MRI study.Brain communications · 2022Article
- Association between Left Atrial Deformation and Brain Involvement in Patients with Anderson-Fabry Disease at Diagnosis.Journal of clinical medicine · 2020Article
- Optical Coherence Tomography Angiography Findings in Fabry Disease.Journal of clinical medicine · 2019Article
- Neuroimaging in Fabry disease: current knowledge and future directions.Insights into imaging · 2018Review
- Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis.Brain and behavior · 2018Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeMultiple Sclerosis (MS) has been proposed as a possible differential diagnosis with Fabry Disease (FD). We evaluated the incidence of infratentorial lesions in FD patients, investigating whether their presence could help in differentiating these two conditions. We explored the diagnostic accuracy of this sign alone and in combination to the involvement of corpus callosum (CC).
methodsWhite Matter lesions were retrospectively evaluated on FLAIR images available from 136 MS and 144 FD patients. Infratentorial involvement was assessed considering the whole cerebellum, and the part of the brainstem included between the occipital foramen and the upper edge of the red nucleus. Furthermore, the presence of callosal lesions was also recorded, evaluating the portion of CC included between the two external walls of the lateral ventricles.
resultsInfratentorial involvement was detectable in 119/136 (87.5%) MS patients, while it was present in only 17/144 (11.8%) FD patients. When the diagnostic performance of a positive infratentorial involvement was evaluated in combination with the presence of CC lesions, a specificity of 97%, with a positive predictive value of 96% was reached.
conclusionsWe concluded that the absence of infratentorial lesions, especially when combined to the evaluation of other typical imaging features, can help in the differential diagnosis between MS and FD.
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