KEYWORDS Amyotrophic lateral sclerosis, Motor neuron disease Background: 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. Methods: We retrospectively investigated the clinical

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... racteristics 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. Results: 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. Conclusions: 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. 서 론 근위축측삭경화증(amyotrophic lateral sclerosis, ALS)은 운동신경원세포의 퇴행성 변화로 인해 상위 운동신경원징 후(upper motor neuron sign)와 하위 운동신경원징후(lower motor neuron sign)가 함께 나타나며, 지속적으로 진행하는 근 위축 및 근 위약을 보이는 대표적인 운동신경원병이다. 1 ALS는 다른 신경퇴행성 질환들과 마찬가지로 지역 및 국