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Article

Startle Disease: New Molecular Insights into an Old Neurological Disorder.

The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry - 1 Dec 2023

Schaefer Natascha, Harvey Robert J, Villmann Carmen

Abstract excerpt

Startle disease (SD) is characterized by enhanced startle responses, generalized muscle stiffness, unexpected falling, and fatal apnea episodes due to disturbed feedback inhibition in the spinal cord and brainstem of affected individuals. Mutations within the glycine receptor (GlyR) subunit and glycine transporter 2 (GlyT2) genes have been identified in individuals with SD. Impaired inhibitory neurotransmission...

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Identifiers

PMID: 35754344
DOI: 10.1177/10738584221104724
PMCID: PMC10623600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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