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[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].

Authors
  • Milà, Montserrat1
  • Madrigal, Irene
  • Kulisevsky, Jaime
  • Pagonabarraga, Javier
  • Gómez, Beatriz
  • Sánchez, Aurora
  • Rodríguez-Revenga, Laia
  • 1 Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, España. [email protected]
Type
Published Article
Journal
Medicina clinica
Publication Date
Jul 18, 2009
Volume
133
Issue
7
Pages
252–254
Identifiers
DOI: 10.1016/j.medcli.2008.12.032
PMID: 19473671
Source
Medline
License
Unknown

Abstract

Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken into account among spinocerebelar ataxia patients with an unknown etiology.

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