Improving the knowledge of amyotrophic lateral sclerosis genetics: Novel SOD1 and FUS variants

Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, Alessandra Gaiani, Francesca Boaretto, Cecilia Salvoro, Giovanni Vazza, Corrado Angelini, Annachiara Cagnin, Elena Pegoraro, Gianni Sorarù, Maria Luisa Mostacciuolo

Research output: Contribution to journalArticlepeer-review


Amyotrophic lateral sclerosis (ALS) is as an adult-onset neurodegenerative disorder involving both upper and lower motor neurons. About 5% of all cases exhibit signs of frontotemporal degeneration (FTD). We established the mutation frequency of C9ORF72, SOD1, TARDBP, and FUS genes in 307 patients with sporadic ALS, 46 patients with familial ALS (FALS), and 73 patients affected with FTD, all originating from the northeastern part of Italy. C9ORF72 pathogenic expansion was found on 22% of familial ALS, 5% of sporadic ALS, and 14% of FTD patients, resulting the most frequently genetic determinant in our cohort. Sequence analysis of ALS cohort identified 2 novel variants on SOD1 (p.Glu41Gly) and FUS (p.Gly496Glyfs*31). Interestingly, the single base deletion on FUS was observed in an homozygous state, suggesting a recessive pattern of inheritance. No point mutations were identified on FTD cohort. Although useful to direct genetic testing, this study results expand the current knowledge of ALS genetics.

Original languageEnglish
JournalNeurobiology of Aging
Issue number5
Publication statusPublished - May 2014


  • ALS
  • C9ORF72
  • FTD
  • FUS
  • Genetic screening
  • SOD1

ASJC Scopus subject areas

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


Dive into the research topics of 'Improving the knowledge of amyotrophic lateral sclerosis genetics: Novel SOD1 and FUS variants'. Together they form a unique fingerprint.

Cite this