Cognitive impairment and Fabry Disease: a case report with mutation S126G
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 (X...
| Published in: | Neuropsychological Trends |
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| Main Authors: | , , , , , , , |
| Format: | Article |
| Language: | English |
| Published: |
LED Edizioni Universitarie
2016-11-01
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| Subjects: | |
| Online Access: | http://www.ledonline.it/NeuropsychologicalTrends/allegati/NeuropsychologicalTrends_20_Razza.pdf |
| Summary: | 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 off a 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). |
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| ISSN: | 1970-321X 1970-3201 |