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http://hdl.handle.net/10451/49738
Título: | Clinical characteristics in young-adult ALS : results from a Portuguese cohort study |
Autor: | Oliveira Santos, Miguel Gromicho, Marta Pinto, Susana Carvalho, Mamede |
Palavras-chave: | Amyotrophic lateral sclerosis Young-adult ALS Juvenile ALS Genetic mutations Prognosis Survival |
Data: | 2020 |
Editora: | Taylor & Francis |
Citação: | Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(7-8):620-623 |
Resumo: | Studies concerning young-adult amyotrophic lateral sclerosis (yALS) are uncommon, due to the rarity of this condition. We aimed to investigate this subject. Methods: A retrospective-prospective study was conducted in our ALS center, including 1278 ALS patients followed longitudinally. Patients were divided in two groups - yALS (onset ≤40 years) and adult-onset ALS (aALS, onset >40 years). We analyzed phenotype, survival and genetics. Results: Sixty-three out of 1278 (4.9%) patients were included in yALS group, while the majority were categorized as aALS (1215, 95.1%). Juvenile ALS (onset < 25 years) represented 14.3% (9 patients) of yALS. In yALS group mean onset age was 32.5 ± 6.6 years (14-40) and 68.3% were men. Spinal-onset was significantly more frequent in yALS (p < 0.001), while bulbar-onset was more common in aALS (p = 0.002). Diagnostic delay was longer in yALS group (p = 0.02). yALS patients survived longer than aALS (88.2 ± 81.9 versus 41.1 ± 34, p < 0.001), and functional decay was the only independent predictor found in the younger group (p = 0.007). No other significant differences were found, including familial history of ALS. Three yALS patients (4.8%) had C9orf72, SOD1 and FUS mutations identified by single-gene testing. A panel of 50 ALS-related genes investigated with next-generation sequencing in 9 yALS patients revealed no pathogenic mutation. Conclusions: yALS is a rare and specific ALS group. Disease progression is slower and survival longer in yALS, moreover and bulbar-onset phenotype is less common than in aALS. These observations are relevant to inform patients and for clinical trials design. |
Descrição: | © 2020 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases |
Peer review: | yes |
URI: | http://hdl.handle.net/10451/49738 |
DOI: | 10.1080/21678421.2020.1790611 |
Versão do Editor: | https://www.tandfonline.com/toc/iafd20/current |
Aparece nas colecções: | FM - Artigos em Revistas Internacionais IMM - Artigos em Revistas Internacionais |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Clinical_ALS.pdf | 786,86 kB | Adobe PDF | Ver/Abrir Acesso Restrito. Solicitar cópia ao autor! |
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