The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 3
A rare case of juvenile amyotrophic lateral sclerosis
Muhittin Bodur 1 ,Rabia Tütüncü Toker 1 ,Ayşe Nazlı Başak 2 ,Mehmet Sait Okan 1
1 Division of Pediatric Neurology, Department of Pediatrics, Uludag University Faculty of Medicine, Bursa
2 Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, School of Medicine, Koç University Translational Medicine Research Center, İstanbul, Turkey
DOI : 10.24953/turkjped.2021.03.017 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. Keywords : juvenile amyotrophic lateral sclerosis, FUS gene

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