TY - JOUR
T1 - Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis
AU - Tiloca, Cinzia
AU - Ratti, Antonia
AU - Pensato, Viviana
AU - Castucci, Alessia
AU - Sorarù, Gianni
AU - Del Bo, Roberto
AU - Corrado, Lucia
AU - Cereda, Cristina
AU - D'Ascenzo, Carla
AU - Comi, Giacomo P.
AU - Mazzini, Letizia
AU - Castellotti, Barbara
AU - Ticozzi, Nicola
AU - Gellera, Cinzia
AU - Silani, Vincenzo
PY - 2012/3
Y1 - 2012/3
N2 - 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.
AB - 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.
KW - ALS (Amyotrophic lateral sclerosis)
KW - Genetics
KW - VCP (valosin-containing protein)
UR - http://www.scopus.com/inward/record.url?scp=84855809916&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84855809916&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2011.10.025
DO - 10.1016/j.neurobiolaging.2011.10.025
M3 - Article
C2 - 22137929
AN - SCOPUS:84855809916
SN - 0197-4580
VL - 33
JO - Neurobiology of Aging
JF - Neurobiology of Aging
IS - 3
ER -