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Study Links Rare Genetic Variants to ALS Risk

10/31/2025

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Summary

Story summary

Scientists from St. Jude's Children's Research Hospital and the University of Miami identified 423 ultrarare genetic variants in 222 amyotrophic lateral sclerosis (ALS) and 134 hereditary spastic paraplegia (HSP) patients, indicating shared genetic origins.
The study shows genes linked to hereditary spastic paraplegia may increase risk for sporadic ALS.
The findings were published in Translational Neurodegeneration and could advance understanding of motor neuron diseases and inform future treatments.

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Story summary

Scientists from St. Jude's Children's Research Hospital and the University of Miami identified 423 ultrarare genetic variants in 222 amyotrophic lateral sclerosis (ALS) and 134 hereditary spastic paraplegia (HSP) patients, indicating shared genetic origins.
The study shows genes linked to hereditary spastic paraplegia may increase risk for sporadic ALS.
The findings were published in Translational Neurodegeneration and could advance understanding of motor neuron diseases and inform future treatments.