title: P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.
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.
authors: Istituto di Neurologia, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168 Rome, Italy.
authors: Amelia
authors: A
authors: Conte
authors: Serena
authors: S
authors: Lattante
authors: Marcella
authors: M
authors: Zollino
authors: Giuseppe
authors: G
authors: Marangi
authors: Marco
authors: M
authors: Luigetti
authors: Alessandra
authors: A
authors: Del Grande
authors: Serenella
authors: S
authors: Servidei
authors: Federica
authors: F
authors: Trombetta
authors: Mario
authors: M
authors: Sabatelli
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D034702:RNA-Binding Protein FUS / Q000235:genetics*
chemical_list: D034702:RNA-Binding Protein FUS