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.

Lattante, S., Le Ber, I., Camuzat, A., Brice, A., Kabashi, E., Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France, <<NEUROBIOLOGY OF AGING>>, 2013; 34 (6): 1709.e1-1709.e1-2. [doi:10.1016/j.neurobiolaging.2012.10.026] [http://hdl.handle.net/10807/65587]

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

Lattante, Serena;
2013

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.
Inglese
Lattante, S., Le Ber, I., Camuzat, A., Brice, A., Kabashi, E., Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France, <<NEUROBIOLOGY OF AGING>>, 2013; 34 (6): 1709.e1-1709.e1-2. [doi:10.1016/j.neurobiolaging.2012.10.026] [http://hdl.handle.net/10807/65587]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/65587
Citazioni
  • ???jsp.display-item.citation.pmc??? 11
  • Scopus 25
  • ???jsp.display-item.citation.isi??? 9
social impact