P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis

Neuromuscul Disord. 2012 Jan;22(1):73-5. doi: 10.1016/j.nmd.2011.08.003. Epub 2011 Sep 9.


Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases.

Publication types

  • Case Reports

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Mutation / genetics*
  • Phenotype
  • RNA-Binding Protein FUS / genetics*


  • RNA-Binding Protein FUS