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Research ArticleORIGINAL RESEARCH

Clinical and pathophysiological correlates of basilar artery measurements in Fabry Disease

Alessandra Scaravilli, Serena Capasso, Lorenzo Ugga, Ivana Capuano, Teodolinda Di Risi, Giuseppe Pontillo, Eleonora Riccio, Mario Tranfa, Antonio Pisani, Arturo Brunetti and Sirio Cocozza
American Journal of Neuroradiology July 2024, ajnr.A8403; DOI: https://doi.org/10.3174/ajnr.A8403
Alessandra Scaravilli
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Serena Capasso
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Lorenzo Ugga
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Ivana Capuano
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Teodolinda Di Risi
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Giuseppe Pontillo
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Eleonora Riccio
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Mario Tranfa
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Antonio Pisani
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Arturo Brunetti
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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Sirio Cocozza
From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B, S.C.) and Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy; CEINGE -Advanced Biotechnologies (T.D.R.), Naples, Italy
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ABSTRACT

BACKGROUND AND PURPOSE: Alterations of the Basilar Artery (BA) anatomy have been suggested as a possible Magnetic Resonance Angiography (MRA) feature of Fabry Disease (FD). Nonetheless, no information about their clinical or pathophysiological correlates is available, limiting our comprehension of the real impact of vessel remodeling in FD.

MATERIALS AND METHODS: Brain MRIs of 53 FD subjects (40.7±12.4 years, M/F=23/30) were collected in this single center study. Mean BA diameter and its Tortuosity Index (TI) were calculated on MRA. Possible correlations between these metrics and clinical, laboratory and advanced imaging variables of the posterior circulation were tested. In a subgroup of 20 subjects, a two-year clinical and imaging follow-up was available, with possible longitudinal changes of these metrics and their ability in predicting clinical scores that were also probed.

RESULTS: No significant association was found between MRA metrics and any clinical, laboratory or advanced imaging variable (ρ values ranging from -0.006 to 0.32). At the follow-up examination, no changes were observed over time for mean BA diameter (p = 0.84) and TI (p = 0.70). Finally, baseline MRA variables failed to predict the clinical status of FD patients at follow-up (p=0.42 and 0.66, respectively).

CONCLUSIONS: Alterations of BA in FD lack of any significant association with clinical, laboratory or advanced imaging findings collected in this study. Furthermore, this lack of correlation seems constant over time, suggesting their stability over time. Taken together, all these results suggest that the role of BA dolichoectasia in FD should be reconsidered.

ABBREVIATIONS: CNS = Central Nervous System; FASTEX = FAbry STabilization indEX; FD = Fabry Disease; Gb3 = Globotriaosylceramide; LysoGb3 = globotriaosylsphingosine; MSSI = Mainz Severity Score Index.

Footnotes

  • The authors declare no conflicts of interest related to the content of this article.

  • © 2024 by American Journal of Neuroradiology
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Alessandra Scaravilli, Serena Capasso, Lorenzo Ugga, Ivana Capuano, Teodolinda Di Risi, Giuseppe Pontillo, Eleonora Riccio, Mario Tranfa, Antonio Pisani, Arturo Brunetti, Sirio Cocozza
Clinical and pathophysiological correlates of basilar artery measurements in Fabry Disease
American Journal of Neuroradiology Jul 2024, ajnr.A8403; DOI: 10.3174/ajnr.A8403

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Accepted Manuscript
Clinical and pathophysiological correlates of basilar artery measurements in Fabry Disease
Alessandra Scaravilli, Serena Capasso, Lorenzo Ugga, Ivana Capuano, Teodolinda Di Risi, Giuseppe Pontillo, Eleonora Riccio, Mario Tranfa, Antonio Pisani, Arturo Brunetti, Sirio Cocozza
American Journal of Neuroradiology Jul 2024, ajnr.A8403; DOI: 10.3174/ajnr.A8403
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