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[Accepted]
Published online October 6, 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
Correspondence:  Seung Hyun Kim, Tel: 02-2290-9368, Fax: 0222968370, 
Email: kimsh1@hanyang.ac.kr
Received: 20 November 2019   • Accepted: 6 October 2020
Abstract
Background
s: Amyotrophic lateral sclerosis(ALS) is the neurodegenerative disease characterized by the progressive motor neurons degeneration with phenotypic heterogeneity, including age at onset. Juvenile ALS (JALS) refers to ALS patients who occur before 25 years and typically had slow progression. This study aimed to identify the characteristics of juvenile ALS from Korean ALS cohorts.
Methods
We retrospectively investigated clinical characteristics of JALS patients, who met revised El Escorial-Airlie House criteria, in the Korean motor neuron disease cohort from January 2002 to November 2018. To evaluate genetic background in JALS, we screened SOD1 mutation in all JALS patients using PCR.
Results
Among 7 JALS patients, mean age was 22.1 years(± 2.19 years) and 4 patients were male. Most patients spent lesser than 12 months to diagnose, but one patient took 96 months for initial diagnosis. Assessing cognitive function, there was no patient with dementia. Progression rate of JALS during follow-up were usually slow (median[IQR], 0.31[0.11-0.52]) except patient 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 SOD1 mutation among sporadic JALS patients.
Conclusion
Although JALS patients with genetic mutations(SOD1-p.Asn87Ser, CLEC4C-p.Lys210*) showed faster progression than other JALS, 1 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 numbers of JALS patients. To investigate the other genetic causes of JALS without SOD1 mutation, a further study including detailed genetic analysis will be needed.
Key Words: Amyotrophic lateral sclerosis, Motor neuron disease, Juvenile


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