Vietnamese Journal of Neurology

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Articles Issue: Vietnamese Journal of Neurology No.42 Ca lâm sàng

Hereditary Spastic Paraparesis Mimicking Primary Progressive Multiple Sclerosis Due to CYP7B1 Gene Mutation: A Case Report

Published: September 23, 2024
Lượt đọc: 5

Abstract

The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. This report presents the a case of a 49-year-old female with spastic paraparesis, initially suspected to be primary progressive multiple sclerosis (PPMS). Genetic testing later identified two mutations in the CYP7B1 gene that was associated with the SPG5 form of HSP. This case highlights the challenge of distinguishing HSP from other chronic spinal cord diseases and emphasizes the role of genetic analysis in rare cases of spastic paraplegia.

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Authors

Lê Văn Thủy

Trường Đại học Y Hà Nội

Bệnh viện Đại học Y Hà Nội

Bệnh viện Bạch Mai

Phương Thanh Hà

Trường Đại học Y Hà Nội

Bệnh viện Bạch Mai

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