Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno)

Type
Label
  • Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (Abstract/Poster in atti di convegno) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Alternative label
  • FL Conforti , T Sprovieri , R Mazzei , C Ungaro, A Patitucci, A Magariello , AL Gabriele, M Muglia , A Quattrone (2006)
    Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy
    in The American Society of Human Genetics,, New Orleans, Louisiana
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • FL Conforti , T Sprovieri , R Mazzei , C Ungaro, A Patitucci, A Magariello , AL Gabriele, M Muglia , A Quattrone (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Amyotrophic Lateral Sclerosis (ALS), a fatal adult-onset motor neuron degeneration is caused by mutations in the Cu/Zn superoxide dismutase (SOD1) gene. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A, very frequent in Scandinavian population, that can act as recessive. Only few cases of D90A heterozygous ALS in non-Scandinavian patients have been reported, all of them inherited as dominant trait. In Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in homozygous state. One hundred and fifty-four ALS patients (8 familial and 146 sporadic cases) from Southern Italy were screened for SOD1 mutations by standard procedures. In our study, of 154 cases investigated three ALS patients with mild phenotype showed the homozygous D90A mutation in SOD1 gene. Two out of three patients were familial cases and the remaining patient was an apparently sporadic case. We also screened the available members of one of the FALS cases. In this family we identified an affected and an unaffected individual carrying the D90A mutation in homozygous and heterozygous state respectively. According to previous data that reported for all D90A homozygous ALS patients a phenotype characterized by slow progression of the disease, also our patients show a mild phenotype with a prolonged survival. In conclusion, our study provides further evidence that D90A is an autosomal recessively inherited mutation in ALS patients in Southern Italy. (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, CNR, Mangone (CS), 87050, Italy (literal)
Titolo
  • Further evidence that D90A mutation is recessively inherited in ALS patients in Southern Italy (literal)
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