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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

71 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)73-75
Numero di pagine3
RivistaNeuromuscular Disorders
Volume22
DOI
Stato di pubblicazionePubblicato - 2012

Keywords

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

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