A rare case of juvenile amyotrophic lateral sclerosis
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...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2021-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/324 |
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| author | Muhittin Bodur Rabia Tütüncü Toker Ayşe Nazlı Başak Mehmet Sait Okan |
| author_facet | Muhittin Bodur Rabia Tütüncü Toker Ayşe Nazlı Başak Mehmet Sait Okan |
| author_sort | Muhittin Bodur |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-ee6aa4137d7b4e70b5775c60e08b079e |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-ee6aa4137d7b4e70b5775c60e08b079e2025-08-20T03:01:14ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-06-0163310.24953/turkjped.2021.03.017A rare case of juvenile amyotrophic lateral sclerosisMuhittin Bodur0Rabia Tütüncü Toker1Ayşe Nazlı Başak2Mehmet Sait Okan3Division of Pediatric Neurology, Department of Pediatrics, Uludag University Faculty of Medicine, Bursa.Division of Pediatric Neurology, Department of Pediatrics, Uludag University Faculty of Medicine, Bursa.Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, School of Medicine, Koç University Translational Medicine Research Center, İstanbul, Turkey.Division 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. https://turkjpediatr.org/article/view/324FUS genejuvenile amyotrophic lateral sclerosis |
| spellingShingle | Muhittin Bodur Rabia Tütüncü Toker Ayşe Nazlı Başak Mehmet Sait Okan A rare case of juvenile amyotrophic lateral sclerosis The Turkish Journal of Pediatrics FUS gene juvenile amyotrophic lateral sclerosis |
| title | A rare case of juvenile amyotrophic lateral sclerosis |
| title_full | A rare case of juvenile amyotrophic lateral sclerosis |
| title_fullStr | A rare case of juvenile amyotrophic lateral sclerosis |
| title_full_unstemmed | A rare case of juvenile amyotrophic lateral sclerosis |
| title_short | A rare case of juvenile amyotrophic lateral sclerosis |
| title_sort | rare case of juvenile amyotrophic lateral sclerosis |
| topic | FUS gene juvenile amyotrophic lateral sclerosis |
| url | https://turkjpediatr.org/article/view/324 |
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