Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study
- S Buechner1,
- M Moretti2,
- A P Burlina3,
- G Cei4,
- R Manara5,
- R Ricci6,
- R Mignani7,
- R Parini8,
- R Di Vito9,
- G P Giordano2,
- P Simonelli2,
- G Siciliano4,
- W Borsini2
- 1Department of Neurology, General Hospital of Bozen, Bozen, Italy
- 2Departments of Neurological and Psychiatric Sciences and Neuroradiology, University of Florence, Careggi Hospital, Florence, Italy
- 3Department of Neuroscience, 1st Neurological Clinic, University Hospital of Padova, Padova, Italy
- 4Department of Neurological Sciences and Neuroradiology, University of Pisa, Pisa, Italy
- 5Neuroradiology Unit, University Hospital of Padova, Padova, Italy
- 6Paediatric Department, Catholic University of Sacro Cuore, Largo Agostino Gemelli, Rome, Italy
- 7Renal Unit, Infermi Hospital, Rimini, Italy
- 8Centro “Fondazione Mariani” per le malattie metaboliche, Paediatric Department, Hospital San Gerardo, Monza, Italy
- 9Nephrology and Dialysis Unit, Bernabeo Hospital, Ortona, Italy
- Susanne Buechner, Specialist of Neurology, Department of Neurology, General Hospital of Bozen, Via Lorenz Boehler 5, I - 39100 Bozen, Italy; susanne.buechner{at}asbz.it
- Received 5 January 2008
- Revised 30 April 2008
- Accepted 21 May 2008
- Published Online First 5 June 2008
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 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.
Footnotes
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Competing interests: None declared.
