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01-07-2016 | Cerebrovascular Disorders (HP Adams, Section Editor)

Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features

Authors: Michela Ranieri, MD, Gloria Bedini, PhD, Eugenio Agostino Parati, MD, Anna Bersano, MD, PhD

Published in: Current Treatment Options in Neurology | Issue 7/2016

Opinion statement

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.

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Title: Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features
Authors: Michela Ranieri, MD
Gloria Bedini, PhD
Eugenio Agostino Parati, MD
Anna Bersano, MD, PhD
Publication date: 01-07-2016
Publisher: Springer US
Published in: Current Treatment Options in Neurology / Issue 7/2016
Print ISSN: 1092-8480
Electronic ISSN: 1534-3138
DOI: https://doi.org/10.1007/s11940-016-0414-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features

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Keynote webinar | Spotlight on medication adherence

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