Article

Peripheral neuron phenotypes of familial dysautonomia are rescued by AAV-mediated gene therapy

2025-09-23

Abstract excerpt

<title>Abstract</title> <p> Familial dysautonomia (FD) is a rare genetic, neurodevelopmental and neurodegenerative disorder, where a homozygous mutation in the <italic>ELP1</italic> gene is responsible for defects and symptoms found in 99% of patients (1). FD symptoms mainly affect the peripheral nervous system (PNS) (2), including the autonomic and sensory nervous systems (ANS, SNS) (3). The ANS regulates unc...

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Literature Corpus work: 4020d668-6582-5f01-8726-540d60291ac0
DOI: 10.21203/rs.3.rs-7529031/v1

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