Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance
Listen to this summary
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.
This is one of 33,000+ journals available on OSLR. Try it free for 14 days.
Free 14-day trial. 33,000+ journals. Cancel anytime.
More in Psychiatry & Neurology
View all →Sep 23, 2026 · The New England journal of medicine
Etuvetidigene Autotemcel for the Treatment of Wiskott-Aldrich Syndrome
Sep 23, 2026 · The New England journal of medicine
Clinical Uses of Common Genetic Variants Associated with Common Diseases
Sep 23, 2026 · The New England journal of medicine
Phase 1 Study of Anito-cel, a d-Domain BCMA CAR T Cell for Refractory or Recurrent Myeloma
Sep 23, 2026 · The New England journal of medicine
Effect of Screening with Multicancer Early-Detection Test on Late-Stage Cancer Diagnosis
Sep 23, 2026 · The American journal of psychiatry
Age-Associated Cognitive Deviations in Early-Onset Psychosis Patients and Their Siblings
Sep 22, 2026 · The American journal of sports medicine
Lateral Tibial Posterior Slope Induces Anterior Tibial Translation While Lateral-Medial Slope Difference Induces Internal Rotation: A Cadaveric Biomechanical Study
"Oslr has become part of my weekly routine on my day off. The clinical relevance of the summaries is outstanding — I'd rate it 9/10. Being able to consume research hands-free is a huge advantage for busy physicians."
Dr. Jennifer Thompson
Portland, OR
Stay current without falling behind
33,000+ journals. 3-minute audio summaries. Free for 14 days.
