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

Figure 1 Pedigree of the patient and mutation analysis of the SPG4 gene. A: The family with hereditary spastic paraplegia (HSP). The proband is indicated by an arrow. A square indicates male, a circle for female, a shadow symbol for an HSP individual, including a black shadow for a symptomatic patient and a gray shadow for an asymptomatic patient, a non-shadowing symbol for a non-HSP individual, and a slash symbol for a deceased individual; B: Sequence analysis identified a c. 1053dupA mutation in the SPG4 gene in this family. Black frames delineate the C. 1053dupA nucleotides; and C: Wild-type sequence.