Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance
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This study investigates the clinical and genetic characteristics of two adolescents with juvenile-onset, rapidly progressive amyotrophic lateral sclerosis (ALS) associated with the SOD1 variant p.Asp125Gly. The authors aim to expand the understanding of SOD1-ALS phenotypes, particularly in younger patients, and highlight the variant's incomplete penetrance as it was inherited from asymptomatic fathers. The findings underscore the importance of recognizing juvenile SOD1-ALS in the context of emerging targeted therapies.
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