Pre-symptomatic spinal muscular atrophy: a proposed nosology COMMENT

Review Clinical Neurology

Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases

Michael Benatar et al.

Summary: Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. Advances in other neurodegenerative diseases provide valuable insights and highlight opportunities for discovery in ALS. Biomarkers play a critical role in studying pre-symptomatic ALS and are essential for early therapeutic intervention and disease prevention.

BRAIN (2022)

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Meeting Abstract Clinical Neurology

Newborn screening (NBS) for spinal muscular atrophy (SMA) in the United States (US): Early findings from the RESTORE registry

L. Servais et al.

NEUROMUSCULAR DISORDERS (2021)

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Article Cell Biology

Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA

Lingling Kong et al.

Summary: Gene replacement and pre-mRNA splicing modifier therapies show promise as breakthrough treatments for SMA, but the mechanisms underlying their variable efficacy are not fully understood. Studies in severe infantile onset human SMA tissues and mouse models reveal the importance of early treatment in improving motor neuron development and function. Genetic restoration of survival motor neuron protein in mouse motor neurons can enhance SMA motor axon development and maintenance. Early intervention is crucial to prevent neonatal axon degeneration and optimize therapeutic outcomes for SMA patients.

SCIENCE TRANSLATIONAL MEDICINE (2021)

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Article Medicine, Research & Experimental

Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series

Christiano R. R. Alves et al.

Summary: This longitudinal cohort study found that circulating neurofilament (NF) levels were associated with the response of infants with spinal muscular atrophy (SMA) to genetic therapies, showing differences in NF levels and achievement of motor milestones among infants receiving different treatments.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)

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Review Clinical Neurology