1. Inicio
  2. Publicaciones
  3. Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome.

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

Fecha de publicación:

Autores de I3PT

Participantes ajenos a I3PT

  • Potrony M
  • Bague J
  • Cutler DJ
  • Alvarez-Mora MI
  • Torres T
  • Barcos T
  • Puig-Butille JA
  • Madrigal I
  • Puig S
  • Allen EG
  • Rodriguez-Revenga L

Grupos de Investigación

Abstract

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.

Datos de la publicación

ISSN/ISSNe:
1663-4365,

Frontiers in Aging Neuroscience  FRONTIERS MEDIA SA

Tipo:
Article
Páginas:
1073258-1073258
PubMed:
36688175
Enlace a otro recurso:
www.scopus.com

Citas Recibidas en Web of Science: 2

Documentos

  • No hay documentos

Métricas

Filiaciones mostrar / ocultar

Keywords

  • AQP4, FMR1 premutation, FXTAS, genetic variation, glymphatic system

Campos de Estudio

Compartir