Fabry disease and multiple sclerosis misdiagnosis: The role of family history and neurological signs

Riccardo Alessandro, Luisa Amico, Alessandro Burlina, Carmela Zizzo, Luigi Sicurella, Simone Scalia, Antonello Giordano, Antonello Giordano, Antonello Giordano, Paolo Colomba, Luigi Sicurella, Giovanni Duro, Riccardo Alessandro, Giuseppe Cammarata, Maurizio Pieroni

Risultato della ricerca: Articlepeer review

6 Citazioni (Scopus)

Abstract

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by a galactosidase A (a-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes a-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involvement of organs outside the central nervous system can support the FD diagnosis.
Lingua originaleEnglish
pagine (da-a)7758-7762
Numero di pagine5
RivistaOncotarget
Volume9
Stato di pubblicazionePublished - 2018

All Science Journal Classification (ASJC) codes

  • Oncology

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