Article Text

other Versions

PDF
Central nervous system involvement in anderson-fabry diease: A clinical and MRI retrospective study.
  1. Susanne Buechner (susanne.buechner{at}asbz.it)
  1. General Hospital of Bozen, Department of Neurology, Italy
    1. Marco Moretti (mmoretti2{at}sirm.org)
    1. University of Florence, Careggi Hospital, Department of Neuroradiology, Italy
      1. Alessandro P. Burlina (alessandro.burlina{at}unipd.it)
      1. University Hospital of Padova, Department of Neuroscience, first Neurological Clinical, Italy
        1. Giovanni Cei (angiochi{at}sysnet.it)
        1. University of Pisa, Department of Neurological Sciences and Neuroradiology, Italy
          1. Renzo Manara (renzo.manara{at}unipd.it)
          1. University Hospital of Padova, Neuroradiology Unit, Italy
            1. Roberta Ricci (rricci38{at}yahoo.it)
            1. Catholic University of Sacro Cuore Rome, Paediatrics Department, Italy
              1. Renzo Mignani (renzo.mignani{at}auslrn.net)
              1. Infermi Hospital Rimini, Renal Unit, Italy
                1. Rossella Parini (rossella.parini{at}pediatriamonza.it)
                1. Hospital San Gerardo Monza, Paediatric Department, Italy
                  1. Raffaele Di Vito (lellodv{at}yahoo.it)
                  1. Bernabeo Hospital Ortona, Nephrology and Dialysis Unit, Italy
                    1. Gian Paolo Giordano (giordanog{at}ao-careggi.toscana.it)
                    1. University of Florence, Careggi Hospital, Department of Neuroradiology, Italy
                      1. Paolo Simonelli (simonellip{at}ao-careggi.toscana.it)
                      1. University of Florence, Careggi Hospital, Neuroradiology, Italy
                        1. Gabriele Siciliano (gsicilia{at}neuro.med.unipi.it)
                        1. University of Pisa, Department of Neurological Sciences and Neuroradiology, Italy
                          1. Walter Borsini (borsiniw{at}aou-careggi.toscana.it)
                          1. University of Florence, Careggi Hospital, Departments of Neurological and Psychiatric Sciences, Italy

                            Abstract

                            Background: Anderson-Fabry Disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain magnetic resonance imaging (MRI) results often abnormal. PURPOSE: The aim of the present study was to describe CNS involvement in a group of Italian AFD patients.

                            Methods: Clinical and brain MRI data of 43 patients with AFD (25 males, 41.94 ± 10.83 yrs old and 18 females, 52.48 ± 17.50 yrs old) were analyzed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).

                            Results: All 43 patients had signs or symptoms of AFD. 16 males (64%) and 13 females (72%) demonstrated CNS involvement although with varying severity. Overall, 6 males and 5 females had suffered from cerebrovascular accidents with an age at onset of 33.64 ± 13.65 yrs and 53.68 ± 11.71 yrs, respectively. Brain MR images were abnormal in 16/25 males and in 13/16 females. During CNS monitoring some patients receiving ERT (5/17 males and 2/6 females) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.

                            Conclusions: The present study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterized by early age at onset and abnormal brain MRIs. At present ERT is widely-used, however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore primary and secondary prophylaxes of cerebrovascular disease are extremely important.

                            Statistics from Altmetric.com

                            Request permissions

                            If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.