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Updated: Jul 7, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Digenic FLNA and UCHL1 variants resulting in a complex phenotype

Helena F Pernice1,2, Luke F O'Donnell1, Alexander M Rossor1

  • 1Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Journal of the Peripheral Nervous System : JPNS
|December 22, 2023
PubMed
Summary

This study reports a rare case of a 67-year-old female with a complex neurological disorder caused by simultaneous genetic variants in Filamin A (FLNA) and ubiquitin C-terminal hydrolase L1 (UCHL1) genes.

Keywords:
FLNAUCHL1preganglionicsensory ataxia

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