Symptomatic Female Spastic Paraplegia Patient with a Novel Heterozygous Variant of the PLP1 Gene.

A case study of a 47‑year‑old unmarried female presented with gait disturbance and voiding difficulty with a novel heterozygous variant of the PLP1 gene. Topics include somatosensory evoked potential tests showed a central conduction defect in the left median and bilateral tibial nerve stimulations; and using whole‑exome sequencing (WES), we identified a novel heterozygous duplication mutation in PLP1, causing the condition.