Fabry Disease and Central Nervous System Involvement
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3). The endothelia...
| Autores: | , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2023 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:281410 |
| Acceso en línea: | https://ddd.uab.cat/record/281410 https://dx.doi.org/urn:doi:10.3390/ijms24065246 |
| Access Level: | acceso abierto |
| Palabra clave: | Fabry disease Lysosome Metabolism Neurotransmitter Neurotransmission Synapse |
| Sumario: | Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3). The endothelial accumulation of these substrates results in injury to multiple organs, mainly the kidney, heart, brain and peripheral nervous system. The literature on FD and central nervous system involvement is scarce when focusing on alterations beyond cerebrovascular disease and is nearly absent in regard to synaptic dysfunction. In spite of that, reports have provided evidence for the CNS' clinical implications in FD, including Parkinson's disease, neuropsychiatric disorders and executive dysfunction. We aim to review these topics based on the current available scientific literature. |
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