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Abstract #3608

Iron accumulation in the striatonigral pathway of patients with Fabry Disease

Camilla Russo1, Giuseppe Pontillo2, Antonio Pisani2, Francesco Saccà2, Eleonora Riccio2, Antonio Macera2, Giovanni Rusconi2, Arnaldo Stanzione2, Pasquale Borrelli3, Vincenzo Brescia Morra2, Enrico Tedeschi2, Arturo Brunetti2, Sirio Cocozza2, and Giuseppe Palma4

1Scienze Biomediche Avanzate, Università degli Studi di Napoli "Federico II", Napoli, Italy, 2University “Federico II”, Napoli, Italy, 3IRCCS SDN, Napoli, Italy, 4Institute of Biostructure and Bioimaging, National Research Council, Napoli, Italy

In Fabry Disease (FD) patients, compared to healthy controls, a significant increase in magnetic susceptibility has been observed in the substantia nigra and in the striatum, associated to a significant volume loss limited to the single substantia nigra. These findings probably reflect neurodegenerative phenomena due to pathological iron deposition in these particular extrapyramidal relay stations. This evidence supports the current hypothesis of a permeative cerebral involvement in FD that goes further the pure cerebrovascular association, thus shedding new light on this condition.

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