@article {Buechner1249, author = {S Buechner and M Moretti and A P Burlina and G Cei and R Manara and R Ricci and R Mignani and R Parini and R Di Vito and G P Giordano and P Simonelli and G Siciliano and W Borsini}, title = {Central nervous system involvement in Anderson{\textendash}Fabry disease: a clinical and MRI retrospective study}, volume = {79}, number = {11}, pages = {1249--1254}, year = {2008}, doi = {10.1136/jnnp.2008.143693}, publisher = {BMJ Publishing Group Ltd}, abstract = {Background: Anderson{\textendash}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{\textpm}10.83 years old and 18 women, 52.48{\textpm}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{\textpm}13.65 years and 53.68{\textpm}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.}, issn = {0022-3050}, URL = {https://jnnp.bmj.com/content/79/11/1249}, eprint = {https://jnnp.bmj.com/content/79/11/1249.full.pdf}, journal = {Journal of Neurology, Neurosurgery \& Psychiatry} }