Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis

Carmine Ungaro, Teresa Sprovieri, Giovanna Morello, Benedetta Perrone, Antonio Gianmaria Spampinato, Isabella Laura Simone, Francesca Trojsi, Maria Rosaria Monsurrò, Rossella Spataro, Vincenzo La Bella, Sebastiano Andò, Sebastiano Cavallaro, Francesca Luisa Conforti

Research output: Contribution to journalArticle


Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 intermediate repeat and the pathological C9orf72 expansion, supporting the involvement of this risk factor in neuronal degeneration. Overall, our study broadens the known mutational spectrum in ALS and provides new insights for a more accurate view of the genetic pattern of the disease.

Original languageEnglish
Pages (from-to)1e1-1e8
Number of pages8
JournalNeurobiology of Aging
Publication statusAccepted/In press - Aug 27 2020


  • Amyotrophic lateral sclerosis
  • Molecular analysis
  • Sanger sequencing

ASJC Scopus subject areas

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


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