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

Amelia Conte, Serena Lattante, Marcella Zollino, Giuseppe Marangi, Marco Luigetti, Alessandra Del Grande, Serenella Servidei, Federica Trombetta, Mario Sabatelli

Research output: Contribution to journalArticlepeer-review

73 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)73-75
Number of pages3
JournalNeuromuscular Disorders
Volume22
DOIs
Publication statusPublished - 2012

Keywords

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

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