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Article

Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants.

BMC medical genomics - 27 May 2026

Sustrova Eva, Rihova Kamila, Pokorna Petra, Havlova Veronika, Stiborek Marek, Simek Zdenek, Damborsky Jiri, Horak Ondrej, Kozelkova Katerina, Hlouskova Eliska, Demlova Regina, Kubatova Jana, Slaby Ondrej, Slaba Katerina

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia type 56 (SPG56) is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the CYP2U1 gene, which encodes a cytochrome P450 enzyme involved in fatty acid metabolism and mitochondrial function. The clinical spectrum includes progressive spasticity of the lower limbs, developmental delay or regression, cognitive impairment, and variable...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42204580
DOI: 10.1186/s12920-026-02394-7
PMCID: PMC13397756

Genes

CYP2U1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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