Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis

Cinzia Tiloca, Antonia Ratti, Viviana Pensato, Alessia Castucci, Gianni Sorarù, Roberto Del Bo, Lucia Corrado, Cristina Cereda, Carla D'Ascenzo, Giacomo P. Comi, Letizia Mazzini, Barbara Castellotti, Nicola Ticozzi, Cinzia Gellera, Vincenzo Silani

Research output: Contribution to journalArticlepeer-review


Mutations in valosin-containing protein (VCP) gene, already known to be associated with the multisystemic disorder, inclusion body myopathy with Paget's disease and frontotemporal dementia (IBMPFD), have been recently found also in familial cases of amyotrophic lateral sclerosis (ALS). To further define the frequency of VCP mutations in ALS Italian population, we screened a cohort of 166 familial ALS and 14 ALS-frontotemporal dementia (FTD) individuals. We identified a previously reported synonymous mutation (c.2093A>C; p.Q568Q), 2 intronic variants (c.1749-14C>T; c.2085-3C>T), and 1 nucleotide change (c.2814G>T) in the 3' untranslated region (UTR). Bioinformatical analyses predicted no changes in splicing process or microRNA binding sites. Our results do not confirm a main contribution of VCP gene to familial ALS in the Italian population.

Original languageEnglish
JournalNeurobiology of Aging
Issue number3
Publication statusPublished - Mar 2012


  • ALS (Amyotrophic lateral sclerosis)
  • Genetics
  • VCP (valosin-containing protein)

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Ageing
  • Developmental Biology
  • Geriatrics and Gerontology


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