Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?
Anderson–Fabry disease
Parkinson disease
lysosomal enzymes
neurodegenerative
neuroimaging
α-galactosidase
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
05 Dec 2022
05 Dec 2022
Historique:
received:
14
11
2022
revised:
29
11
2022
accepted:
01
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
24
12
2022
Statut:
epublish
Résumé
Anderson-Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by a composite and multisystemic clinical phenotype and frequent involvement of the central nervous system (CNS). Research in this area has largely focused on the cerebrovascular manifestations of the disease, and very little has been described about further neurological manifestations, which are known in other lysosomal diseases, such as Gaucher disease. In particular, a clinical and neuroimaging phenotype suggesting neurodegeneration as a putative mechanism has never been fully described for AFD, but the increased survival of affected patients with early diagnosis and the possibility of treatment have given rise to some isolated reports in the literature on the association of AFD with a clinical phenotype of Parkinson disease (PD). The data are currently scarce, but it is possible to hypothesize the molecular mechanisms of cell damage that support this association; this topic is worthy of further study in particular in relation to the therapeutic possibilities, which have significantly modified the natural history of the disease but which are not specifically dedicated to the CNS. In this review, the molecular mechanisms underlying this association will be proposed, and the available data with implications for future research and treatment will be rewritten.
Identifiants
pubmed: 36551888
pii: biomedicines10123132
doi: 10.3390/biomedicines10123132
pmc: PMC9776280
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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