Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55-200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. After that, different findings...

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Detalhes bibliográficos
Autores: Elias-Mas A, Potrony M, Bague J, Cutler DJ, Alvarez-Mora MI, Torres T, Barcos T, Puig-Butille JA, Rubio M, Madrigal I, Puig S, Allen EG, Rodriguez-Revenga L
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Recursos:Institut d'Investigació i Innovació Parc Taulí (I3PT)
Repositorio:r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
OAI Identifier:oai:i3pt.fundanetsuite.com:p1894
Acesso em linha:https://i3pt.portalinvestigacion.com/publicaciones/1894
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85146585511&doi=10.3389%2ffnagi.2022.1073258&partnerID=40&md5=7fadfdceec93b88c57adef5a1e57cd0c
Access Level:acceso abierto
Palavra-chave:AQP4, FMR1 premutation, FXTAS, genetic variation, glymphatic system
Descrição
Resumo:Fragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55-200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. After that, different findings including ataxia, and more variably, loss of sensation in the distal lower extremities and autonomic dysfunction, may occur, and gradually progress. Cognitive deficits are also observed, and include memory problems and executive function deficits, with a gradual progression to dementia in some individuals. Aquaporin 4 (AQP4) is a commonly distributed water channel in astrocytes of the central nervous system. Changes in AQP4 activity and expression have been implicated in several central nervous system disorders. Previous studies have suggested the associations of AQP4 single nucleotide polymorphisms (SNPs) with brain-water homeostasis, and neurodegeneration disease. To date, this association has not been studied in FXTAS.

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