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Article

Genotypic and phenotypic spectrum of hereditary spastic paraplegia 56: insights from novel CYP2U1 variants and a literature review.

BMC neurology - 23 Apr 2026

Buasri Kochakorn, Theobald Kristin, Pant Devesh C, Verma Sumit, Jackson Farrah, Lopes Jaime, Brewer Casey J, Dawson Brian, Taylor Sarah E, Slavotinek Anne

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia type 56 (HSP56) is a rare, autosomal recessive neurodegenerative disorder caused by pathogenic variants in the CYP2U1 gene which encodes a cytochrome P450 enzyme that is critical for fatty acid metabolism and mitochondrial function. Herein, we explore the diagnosis and management of three patients with novel variants in CYP2U1 and review the literature on...

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Identifiers

PMID: 42026498
DOI: 10.1186/s12883-026-04908-3
PMCID: PMC13267710

Genes

CYP2U1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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