Fabry Disease and Central Nervous System Involvement : From Big to Small, from Brain to Synapse
Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Fernández-Martín, Julián (Complexo Hospitalario Universitario de Vigo)
Ortolano, Saida (Instituto de Investigación Sanitaria Galicia Sur)
Universitat Autònoma de Barcelona

Date:	2023
Abstract:	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.
Grants:	Instituto de Salud Carlos III PI19/01886
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Fabry disease ; Lysosome ; Metabolism ; Neurotransmitter ; Neurotransmission ; Synapse
Published in:	International journal of molecular sciences, Vol. 24 (march 2023) , ISSN 1422-0067

DOI: 10.3390/ijms24065246
PMID: 36982318

16 p, 860.4 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Articles > Research articles
Articles > Published articles