%0 Journal Article %A S Buechner %A M Moretti %A A P Burlina %A G Cei %A R Manara %A R Ricci %A R Mignani %A R Parini %A R Di Vito %A G P Giordano %A P Simonelli %A G Siciliano %A W Borsini %T Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study %D 2008 %R 10.1136/jnnp.2008.143693 %J Journal of Neurology, Neurosurgery & Psychiatry %P 1249-1254 %V 79 %N 11 %X 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. %U https://jnnp.bmj.com/content/jnnp/79/11/1249.full.pdf