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 language | English |
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Pages (from-to) | 73-75 |
Number of pages | 3 |
Journal | Neuromuscular Disorders |
Volume | 22 |
DOIs | |
Publication status | Published - 2012 |
Keywords
- Amyotrophic Lateral Sclerosis
- Child
- DNA Mutational Analysis
- Female
- Humans
- Mutation
- Phenotype
- RNA-Binding Protein FUS