Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

Serena Lattante, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Edor Kabashi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

23 Citazioni (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are 2 adult onset neurological disorders with overlapping symptoms and clinical characteristics. It is well established that they share a common pathologic and genetic background. Recently, mutations in profilin 1 gene (PFN1) have been identified in patients with familial ALS, suggesting a role for this gene in the pathogenesis of the disease. Based on this, we hypothesized that mutations in PFN1 might also contribute to FTLD disease. We studied a French cohort of 165 ALS/FTLD patients, without finding any variant. We conclude that mutations in PFN1 are not a common cause for ALS/FTLD in France.
Lingua originaleEnglish
pagine (da-a)1709.e1-1709.e1-2
RivistaNeurobiology of Aging
Volume34
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • Amyotrophic Lateral Sclerosis
  • Frontotemporal Lobar Degeneration

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