Cognitive impairment and Fabry Disease: A case report with mutation S126G

Abstract

Anderson-Fabry Disease is a lysosomal storage disease, multisystem, progressive, hereditary, linked to the X-chromosome. Specifically, it is characterized by a glycosphingolipid metabolism due to the reduction or absence of Alpha-galactosidase, an enzyme activity lisosomile gene mutation GLA (Xq21.3-q22), which encodes the enzyme. The decreased activity causes the accumulation of globotriaosylceramide (Gb3) within lysosomes, which in turn sets offa cascade of cellular events. The clinical picture presents a wide spectrum of manifestations of multiple systems: neurological, skin, kidney, cardiovascular disease, auditory and vestibular and cerebrovascular. Despite the recent interest in the involvement of cognitive studies in literature have not yet produced enough results to outline a possible neuropsychological profile of course. Also, not all researchers agree on the existence of a specific cognitive deficit of Fabry Disease (FD). The case discussed here is a example of a neuropsychological profile in patient with FD (mutation p. S126G).