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Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study
  1. S Buechner1,
  2. M Moretti2,
  3. A P Burlina3,
  4. G Cei4,
  5. R Manara5,
  6. R Ricci6,
  7. R Mignani7,
  8. R Parini8,
  9. R Di Vito9,
  10. G P Giordano2,
  11. P Simonelli2,
  12. G Siciliano4,
  13. W Borsini2
  1. 1
    Department of Neurology, General Hospital of Bozen, Bozen, Italy
  2. 2
    Departments of Neurological and Psychiatric Sciences and Neuroradiology, University of Florence, Careggi Hospital, Florence, Italy
  3. 3
    Department of Neuroscience, 1st Neurological Clinic, University Hospital of Padova, Padova, Italy
  4. 4
    Department of Neurological Sciences and Neuroradiology, University of Pisa, Pisa, Italy
  5. 5
    Neuroradiology Unit, University Hospital of Padova, Padova, Italy
  6. 6
    Paediatric Department, Catholic University of Sacro Cuore, Largo Agostino Gemelli, Rome, Italy
  7. 7
    Renal Unit, Infermi Hospital, Rimini, Italy
  8. 8
    Centro “Fondazione Mariani” per le malattie metaboliche, Paediatric Department, Hospital San Gerardo, Monza, Italy
  9. 9
    Nephrology and Dialysis Unit, Bernabeo Hospital, Ortona, Italy
  1. Susanne Buechner, Specialist of Neurology, Department of Neurology, General Hospital of Bozen, Via Lorenz Boehler 5, I - 39100 Bozen, Italy; susanne.buechner{at}


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 MRI results are often abnormal.

Purpose: The aim of the study was to describe CNS involvement in a group of Italian patients with AFD.

Methods: Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94±10.83 years old and 18 women, 52.48±17.50 years old) were analysed 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 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64±13.65 years and 53.68±11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.

Conclusions: The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised 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.

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  • Competing interests: None declared.