The clinical manifestations of two novel SPAST mutations

- The mutations in the SPAST gene have wide spectrum of clinical phenomenology.
- We report 2 novel mutations (c.1732A>T p.R578X and c.1334G>C p.S445T).
- The age at onset is quite different with some differences in phenomenology, as well.
- This report would contribute to the setting up of genotype-phenotype correlations.
- These correlations would serve the better understanding of the function of spastin.