Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature

Figure 1 The pedigree of the SPG3A family. The patient is indicated with arrow (III:1) and the affected families are indicated by solid boxes (I:1 and II:2).

Figure 2 DNA sequencing identified a novel ATL1 c. 752A>G, p.Q251R mutation (top: sequence of the patients; bottom: sequence of healthy individuals).

Figure 3 Magnetic resonance imaging showed the mild atrophy the spinal cord. A: T1 sagittal view B: T2 sagittal view.