A rare case of juvenile amyotrophic lateral sclerosis

نویسندگان

چکیده

Background Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) used for patients whose symptoms start before 25 years age. JALS may be sporadic or familial. Case Here, we present case because its rarity children. heterozygous p.Pro525Leu (c.1574C > T) variation was identified fused sarcoma (FUS) gene. Conclusion mutation FUS gene has been detected with ALS, early onset and severely course.

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ژورنال

عنوان ژورنال: Turkish Journal of Pediatrics

سال: 2021

ISSN: ['0041-4301']

DOI: https://doi.org/10.24953/turkjped.2021.03.017