Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features
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Fabry disease is an X-linked, lysosomal storage disorder caused by a mutation in the GLA gene leading to a deficiency in alpha-galactosidase A enzyme (α-Gal A) activity, which in turn results in accumulation of globotriaosylceramide in the vascular endothelium and smooth muscle cells of different organs, including kidney and heart, finally leading to impairment or failure of organ function. The central and peripheral nervous systems are also affected leading to neurological manifestations such as cerebrovascular diseases, small fiber neuropathy (SFN), and dysautonomic disorders that may be the presenting clinical features in a proportion of patients. This review offers a complete update of all neurological aspects of Fabry disease and therapeutic options. The rarity of disease, as well as the incomplete knowledge regarding natural history, pathogenic mechanisms, and the uncertain efficacy of available therapies, make imperative the acquisition of standardized data on natural disease course. These data are fundamental for the development of new treatments better able to access the central nervous system, to bypass the neutralizing antibodies and to improve the heart and kidney function.
KeywordsFabry disease Neurological aspects Neuroimaging Stroke Peripheral neuropathy Treatment Enzyme recombinant treatment
A special thank you to Dr. Myrna Rosenfeld for taking the time to review this manuscript and to Dr. Marzia Rivello, from Shire Pharmaceuticals Limited, for the support in the organization of multidisciplinary symposia on the disease.
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Conflict of Interest
The authors declare that they have no conflict of interest.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
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