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Korean J Neuromuscul Disord > Volume 12(2); 2020 > Article
Korean Journal of Neuromuscular Disorders 2020;12(2):17-23.
DOI: https://doi.org/10.46518/kjnmd.2020.12.2.17    Published online December 31, 2020.
Clinical Characteristics of Korean Juvenile Amyotrophic Lateral Sclerosis
Sanggon Lee, Jinseok Park, Ki-Wook Oh, Seung Hyun Kim
Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea
한국인 유년기 근위축측삭경화증 환자들의 임상적 특징
이상곤, 박진석, 오기욱, 김승현
한양대학교 의과대학 신경과학교실
Correspondence:  Seung Hyun Kim, Tel: +82-2-2290-8370, Fax: +82-2-2296-8370, 
Email: kimsh1@hanyang.ac.kr
Received: 20 November 2019   • Revised: 26 September 2020   • Accepted: 6 October 2020
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive motor neuron degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) includes ALS patients aged less than 25 years who typically show slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
We retrospectively investigated the clinical characteristics of JALS patients, who met the revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort om January 2002 to November 2018. To evaluate the genetic background ofin JALS, we screened the SOD1 mutation in all JALS patients using PCR.
Among the seven JALS patients, the mean age was 22.1 years (± 2.19 years) and 4 patients were male. Most patients were diagnosed within less than 12 months, but in one patient, it took 96 months to make the initial diagnosis. On assessing the cognitive function, none of the patients had dementia. The progression rate of JALS during follow-up was usually low (median [IQR], 0.31 [0.11-0.52]), except in patients with SOD1 mutation (3.40) and CLEC4C mutation (1.12). One patient revealed a family history of ALS with SOD1 mutation, but we also detected the SOD1 mutation among sporadic JALS patients.
Although JALS patients with genetic mutations (SOD1-p.Asn87Ser and CLEC4C-p.Lys210*) showed faster progression than other JALS patients, one patient with SOD1 mutation (p.Gly17Ala) showed slow progression. Familial ALS was rare; however, it might be caused by low or incomplete penetrance of the genes or by small number of JALS patients. To investigate the other genetic causes of JALS without the SOD1 mutation, a further study including detailed genetic analysis is needed.
Key Words: Amyotrophic lateral sclerosis, Motor neuron disease


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