Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts.

  title={Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts.},
  author={Tim van Langenhove and Julie van der Zee and Sebastiaan Engelborghs and Rik Vandenberghe and Patrick Santens and Marleen van den Broeck and Maria Mattheijssens and Karin Peeters and Dirk Nuytten and Patrick Cras and Peter Paul De Deyn and Peter de Jonghe and Marc Cruts and Christine van Broeckhoven},
  journal={Neurobiology of aging},
  volume={33 5},
There exists considerable clinical and pathological overlap between frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), which implies that these 2 neurodegenerative conditions share common pathogenic mechanisms. Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). We identified in 72 ALS… CONTINUE READING
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG / glutamine repeats

  • J. Infante, J. Berciano, +4 authors O. Combarros
  • Nat . Genet .
  • 2004
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