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Article

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Journal of the peripheral nervous system : JPNS - 1 Mar 2024

Pernice Helena F, O'Donnell Luke F, Rossor Alexander M, Laura Matilde, Record Christopher J, Skorupinska Mariola, Blake Julian, Poh Roy, Polke James, Reilly Mary M

Abstract excerpt

AIM: X-linked variants in Filamin A (FLNA) are associated with the Ehlers-Danlos-syndrome-variant form of periventricular heterotopia, and autosomal dominant variants in ubiquitin C-terminal hydrolase L1 (UCHL1) are associated with a late-onset spastic ataxia, peripheral neuropathy and optic atrophy. Here we present a rare case involving both a novel heterozygous whole-gene deletion of UCHL1 and a heterozygous...

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Identifiers

PMID: 38131667
DOI: 10.1111/jns.12611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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