Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family

Abstract Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder, with spastic paraplegia type 56 (SPG56) being an exceptionally rare, autosomal recessive subtype caused by mutations in the CYP2U1 gene. This study reports a complex case of an adult female from a consanguineous family who...

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Hauptverfasser:	Hong-ping Yu, Jing Zou, Xiang Chen, Ying Chen, Dan-dan Ruan, Qian Chen, Jian-hui Zhang, Qiong Cheng, Xing-lin Ruan, Wei Wen, Li Chen, Jie-wei Luo, Yun-fei Li, Xiao-lin Jiang
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2025-05-01
Schriftenreihe:	BMC Neurology
Schlagworte:	SPG56 CYP2U1 Hereditary spastic paraplegia Consanguinity Complex HSP Ears of the Lynx
Online-Zugang:	https://doi.org/10.1186/s12883-025-04211-7
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