TUBA1A and Spastic paraplegia: In conclusion, in the present study we associate a novel loss of function mutation in TUBA1A to a neurodegenerative phenotype characterized by progressive spastic paraplegia and ataxia, by expanding both phenotypic and mutational spectrum of TUBA1A. Moreover, our data suggest that the reduced availability of TUBA1A, due to its increased protein instability and proteostasis, may be enough to induce neurodegeneration in humans.