Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report.

ABSTRACT:

Background

Hereditary spastic paraplegia (HSP) is a group of neurogenetic diseases of the corticospinal tract, accompanied by distinct spasticity and weakness of the lower extremities. Mutations in the spastic paraplegia type 4 (SPG4) gene, encoding the spastin protein, are the major cause of the disease. This study reported a Chinese family with HSP caused by a novel mutation of the SPG4 gene.

Case summary

A 44-year-old male was admitted to our hospital for long-term right lower limb weakness, leg stiffness, and unstable walking. His symptoms gradually worsened, while no obvious muscle atrophy in the lower limbs was found. Neurological examinations revealed that the muscle strength of the lower limbs was normal, and knee reflex hyperreflexia and bilateral posi

SUBMITTER: Wang J 

PROVIDER: S-EPMC10237142 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature