Lorena Cozzi

Publications (3)18.24 Total impact

• Source

  Available from: Cristina Cereda

  Article: Lack of association of PON polymorphisms with sporadic ALS in an Italian population.

  Claudia Ricci, Stefania Battistini, Lorena Cozzi, Michele Benigni, Paola Origone, Lorenzo Verriello, Christian Lunetta, Cristina Cereda, Pamela Milani, Giuseppe Greco, Maria Cristina Patrosso, Renzo Causarano, Claudia Caponnetto, Fabio Giannini, Massimo Corbo, Silvana Penco
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  ABSTRACT: Paraoxonase (PON) gene polymorphisms have been associated with susceptibility to sporadic amyotrophic lateral sclerosis (ALS). We have investigated the role of the previously associated single nucleotide polymorphisms rs854560, rs662, and rs6954345 in 350 ALS patients and 376 matched controls from Italy. No significant association was observed at genotype and haplotype level. Our data suggest that PON polymorphisms are not involved in ALS pathogenesis in an Italian population.
  Neurobiology of aging 04/2010; 32(3):552.e7-13. · 5.94 Impact Factor
• Source

  Available from: Cristina Cereda

  Article: Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

  Lucia Corrado, Roberto Del Bo, Barbara Castellotti, Antonia Ratti, Cristina Cereda, Silvana Penco, Gianni Sorarù, Yari Carlomagno, Serena Ghezzi, Viviana Pensato, [......], Lorena Cozzi, Valeria Orsetti, Michelangelo Mancuso, Gabriele Siciliano, Letizia Mazzini, Giacomo Pietro Comi, Cinzia Gellera, Mauro Ceroni, Sandra D'Alfonso, Vincenzo Silani
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  ABSTRACT: Mutations in the FUS gene have recently been discovered to be a major cause of familial amyotrophic lateral sclerosis (FALS). To determine the identity and frequency of FUS gene mutations in a large cohort of Italian patients enriched in sporadic cases (SALS). Exons 5, 6, 14 and 15 of the FUS gene were screened for mutations in 1009 patients (45 FALS and 964 SALS). The genetic analysis was extended to the entire coding sequence of FUS in all the FALS and 293 of the SALS patients. Seven missense mutations (p.G191S, p.R216C, p.G225V, p.G230C, p.R234C, p.G507D and p.R521C) were identified in nine patients (seven SALS and two FALS), and none in 500 healthy Italian controls. All mutations are novel except for the p.R521C mutation identified in one SALS and one FALS case. Both patients showed a similar unusual presentation, with proximal, mostly symmetrical, upper limb weakness, with neck and axial involvement. With the exception of p.G507D and p.R521C, the mutations identified in SALS patients are all localised in the glycine-rich region encoded by exon 6. In addition, eight different in-frame deletions in two polyglycine motifs were detected, the frequency of which was not significantly different in patients and controls. The results show that FUS missense mutations are present in 0.7% of Italian SALS cases, and confirm the previous mutational frequency reported in FALS (4.4%). An unusual proximal and axial clinical presentation seems to be associated with the presence of the p.R521C mutation.
  Journal of Medical Genetics 10/2009; 47(3):190-4. · 6.36 Impact Factor
• Article: No association of DPP6 with amyotrophic lateral sclerosis in an Italian population.

  Isabella Fogh, Sandra D'Alfonso, Cinzia Gellera, Antonia Ratti, Cristina Cereda, Silvana Penco, Lucia Corrado, Gianni Sorarù, Barbara Castellotti, Cinzia Tiloca, Stella Gagliardi, Lorena Cozzi, Michelle K Lupton, Nicola Ticozzi, Letizia Mazzini, Chris E Shaw, Ammar Al-Chalabi, John Powell, Vincenzo Silani
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  ABSTRACT: We have attempted to replicate a recently reported association of polymorphism rs10260404, in the Dipeptidyl-peptidase 6 gene (DPP6), with susceptibility to amyotrophic lateral sclerosis (ALS) in a large independent Italian cohort of 904 cases and 1036 controls. Minor allele frequency was 0.38 in cases and 0.39 in controls and no evidence of association with ALS was observed (P=0.638). Our negative results agree with those recently reported in additional Polish and Italian cohorts.
  Neurobiology of aging 07/2009; 32(5):966-7. · 5.94 Impact Factor