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

Abstract 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 explor...

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Detalhes bibliográficos

Principais autores:	Kochakorn Buasri, Kristin Theobald, Devesh C. Pant, Sumit Verma, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Sarah E. Taylor, Anne Slavotinek
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2026-04-01
Colecção:	BMC Neurology
Assuntos:	Hereditary spastic paraplegia type 56 Early onset hereditary spastic paraplegia Whole genome sequencing Cerebral folate metabolism CYP2U1
Acesso em linha:	https://doi.org/10.1186/s12883-026-04908-3
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