Fabry disease, an overview and the most common neurological manifestations

Česká verzia

Authors: P. Reková ¹; K. Sedláková ²; G. Dostálová ³; A. Linhart ³
Authors place of work: Neurologická klinika a Centrum klinických neurověd 1. LF UK a VFN v Praze ¹; Oční klinika 1. LF UK a VFN v Praze ²; II. interní klinika – klinika kardiologie a angiologie 1. LF UK a VFN v Praze ³
Published in the journal: Cesk Slov Neurol N 2018; 81(2): 156-163
Category: Přehledný referát
doi: https://doi.org/10.14735/amcsnn2018156

Snímky z MR jsou publikovány se svolením Radiologické kliniky 1. LF UK a VFN, za jejich poskytnutí autoři děkují. Za poskytnutí fotografie kožních angiokeratomů patří poděkování MU Dr. Lukáši Lacinovi, Ph.D., z Dermatovenerologické kliniky 1. LF UK a VFN

Summary

Fabry disease is a rare inherited lysosomal storage disorder. Patients with classical multisystemic disease have frequent neurological manifestations. It is of great importance for patients to be diagnosed early and properly since there is specific disease therapy available. This article provides an overview of current knowledge about Fabry disease with emphasis on its neurological manifestations.

Key words:
Fabry disease – small fi ber neuropathy – stroke – enzyme-replacement therapy

P. Reková has been in receipt of travel grant and honoraria for lectures on Fabry disease from Shire HGT and Sanofi Genzyme. K. Sedláková has been in receipt of honoraria for lectures on Fabry disease from Shire HGT. G. Dostálová has been in receipt of travel grants and honoraria for lecures on Fabry disease from Protalix Biotherapeutics, Shire HGT and Sanofi Genzyme. A. Linhart has been in receipt of travel grants and honoraria for lectures on Fabry disease from Shire HGT, Sanofi Genzyme and Amicus Therapeutics.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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