Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

A Chiò, G Restagno, M Brunetti, I Ossola, A Calvo, G Mora, Mario Sabatelli, Monsurrò, S Battistini, J Mandrioli, F Salvi, R Spataro, J Schymick, Bj Traynor, V. La Bella

Risultato della ricerca: Contributo in rivistaArticolo in rivista

111 Citazioni (Scopus)


Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.
Lingua originaleEnglish
pagine (da-a)1272-1275
Numero di pagine4
RivistaNeurobiology of Aging
Stato di pubblicazionePubblicato - 2009


  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Amyotrophic Lateral Sclerosis
  • Cohort Studies
  • DNA Mutational Analysis
  • Disease Progression
  • Family
  • Female
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • RNA-Binding Protein FUS
  • Young Adult


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