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.
Conte, A., Lattante, S., Zollino, M., Marangi, G., Luigetti, M., Del Grande, A., Servidei, S., Trombetta, F., Sabatelli, M., P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis, <<NEUROMUSCULAR DISORDERS>>, 2012; 22 (1): 73-75. [doi:10.1016/j.nmd.2011.08.003] [http://hdl.handle.net/10807/3657]
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis
Conte, Amelia;Lattante, Serena;Zollino, Marcella;Marangi, Giuseppe;Luigetti, Marco;Del Grande, Alessandra;Servidei, Serenella;Trombetta, Federica;Sabatelli, Mario
2012
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.
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