A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report
Affiliations: Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, P.R. China, Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China, Department of Nursing, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China, Clinical Medical College, Jining Medical University, Jining, Shandong 272000, P.R. China, Second Clinical Medical College, Binzhou Medical University, Binzhou, Shandong 256600, P.R. China
- Published online on: February 21, 2023 https://doi.org/10.3892/mmr.2023.12966
- Article Number: 79
Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
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Hereditary spastic paraplegia (HSP) comprises a group of hereditary and neurodegenerative diseases that are characterized by axonal degeneration or demyelination of bilateral corticospinal tracts in the spinal cord; affected patients exhibit progressive spasticity and weakness in the lower limbs. The most common manifestation of HSP is spastic paraplegia type 4 (SPG4), which is caused by mutations in the spastin (SPAST) gene. The present study reports the clinical characteristics of affected individuals and sequencing analysis of a mutation that caused SPG4 in a family. All affected family members exhibited spasticity and weakness of the lower limbs and, notably, only male members of the family were affected. Whole‑exome sequencing revealed that all affected individuals had a novel c.1785C>A (p. Ser595Arg) missense mutation in SPAST. Bioinformatics analysis revealed changes in both secondary and tertiary structures of the mutated protein. The novel missense mutation in SPAST supported the diagnosis of SPG4 in this family and expands the spectrum of pathogenic mutations that cause SPG4. Analysis of SPAST sequences revealed that most pathogenic mutations occurred in the AAA domain of the protein, which may have a close relationship with SPG4 pathogenesis.