A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.

ABSTRACT: 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

SUBMITTER: Wang XC 

PROVIDER: S-EPMC10018243 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature