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Erschienen in: Journal of Neurology 12/2014

01.12.2014 | Original Communication

PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis

verfasst von: Enrique Syriani, Candi Salvans, Maria Salvadó, Miguel Morales, Laura Lorenzo, Sonia Cazorla, Josep Gamez

Erschienen in: Journal of Neurology | Ausgabe 12/2014

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Abstract

Evidence of genetic heterogeneity in ALS has been found, with at least 31 genes being identified to date as causing ALS, and other genes being suggested as risk factors for susceptibility to the disease and for phenotype modifications. In recent years, new molecular genetic methodologies, especially GWAS and exome sequencing, have contributed to the identification of new ALS genes. Some of these genes (SOD1, TARDBP, FUS, and C9orf72) have homogenous frequencies in different populations. However, a few genes are rare in populations other than those in which they were first identified. Here we investigate the frequency of the PFN1 gene in a Catalan ALS population. A mutational analysis of the PFN1 gene was carried out on a Catalan cohort of 42 ALS families (FALS) and 423 sporadic ALS patients (SALS). The screening included 600 healthy controls. No PFN1 mutations were identified in either the FALS or SALS group. We also found no mutations in the control group. Our results are consistent with those described in other populations with very low frequencies, suggesting that PFN1 is a very rare cause of ALS worldwide. Together with the absence of a distinctive phenotype associated with ALS18, these results mean that this gene should be a second or third line for inclusion in screening in patients requesting genetic counseling.
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Metadaten
Titel
PFN1 mutations are also rare in the Catalan population with amyotrophic lateral sclerosis
verfasst von
Enrique Syriani
Candi Salvans
Maria Salvadó
Miguel Morales
Laura Lorenzo
Sonia Cazorla
Josep Gamez
Publikationsdatum
01.12.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 12/2014
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-014-7501-x

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