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

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 phenotype-genotype correlations in CYP2U1-related disorders. Through whole-genome sequencing and targeted valida