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Updated: Oct 29, 2025

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
Published on: July 16, 2021
A rare case of juvenile amyotrophic lateral sclerosis
Muhittin Bodur1, Rabia Tütüncü Toker1, Ayşe Nazlı Başak2
1Division of Pediatric Neurology, Department of Pediatrics, Uludag University Faculty of Medicine, Bursa.
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) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial.
Case:
Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C > T) variation was identified in the fused in sarcoma (FUS) gene.
Conclusion:
The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.
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