Article

Loss-of-function Variants in <i>CPT1C</i>: No Support for a Causal Role in Hereditary Spastic Paraplegia

2025-09-19

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. <h4>Objective</h4> To assess if CPT1C loss-of-function (LOF) variants are causally associated with HSP. <h4>Methods</h4> We analyzed whole-genome sequencing (WGS) data from UK Biobank (UKBB), whole-exome seq...

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Literature Corpus work: a77837e8-e465-5fde-a5e3-f939b69bf3ed
DOI: 10.1101/2025.09.18.25335173

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