Published online May 16, 2023. doi: 10.12998/wjcc.v11.i14.3288
Peer-review started: January 6, 2023
First decision: February 8, 2023
Revised: March 15, 2023
Accepted: April 12, 2023
Article in press: April 12, 2023
Published online: May 16, 2023
Processing time: 129 Days and 16.9 Hours
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.
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 positive Babinski signs were detected. Members of his family also had the same symptoms. Using mutation analysis, a novel heterozygous duplication mutation, c.1053dupA, p. (Gln352Thrfs*15), was identified in the SPG4 gene in this family.
A Chinese family with HSP had a novel mutation of the SPG4 gene, which is autosomal dominant and inherited as pure HSP. The age of onset, sex distribution, and clinical manifestations of all existing living patients in this family were analyzed. The findings may extend the current knowledge on the existing mutations in the SPG4 gene.
Core Tip: It is difficult to distinguish hereditary spastic paraplegia (HSP) from other spasticity-related genetic diseases because the different affected genes lead to large differences in the pathogenic mechanisms, clinical features, and imaging abnormalities of HSP. Therefore, genetic testing is important for the diagnosis and typing of HSP. A Chinese HSP male patient was identified, and pedigree surveys of his relatives were performed. Furthermore, genomic DNA was extracted for whole-exome sequencing, and pathogenic variants were screened by bioinformatics methods and verified using Sanger sequencing. A novel heterozygous duplication mutation, c.1053dupA, p. (Gln352Thrfs*15), was identified in the SPG4 gene in this family.