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Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 May 2026

Vaia Ylenia, Mura Eleonora, Bruschi Fabio, Zambrano Stefania, Brena Michela, Tadini Gianluca, Arrigoni Filippo, Antonello Clara E, Uggetti Carla, Parazzini Cecilia, Veggiotti Pierangelo, Tonduti Davide

Abstract excerpt

Very long-chain fatty acid elongase-1 (ELOVL1) is essential for fatty acid elongation and is widely expressed in numerous tissues, including the central nervous system, being involved in the elongation of very long-chain fatty acids (VLCFAs), which are essential for biological processes such as myelin formation. Monoallelic pathogenic variants in ELOVL1 have been described in association to a condition...

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Brain
Fatty Acid Elongases
Ichthyosis
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Paraparesis, Spastic

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Open in PubMed Open full text

Identifiers

PMID: 42101073
DOI: 10.1002/jdn.70137
PMCID: PMC13155072

Genes

ELOVL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.PMID 42101073Read ↗

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