Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?

@article{Bakowska2008LackOS,
  title={Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?},
  author={Joanna C. Bakowska and Heng Wang and Baozhong Xin and Charlotte J Sumner and Craig Blackstone},
  journal={Archives of neurology},
  year={2008},
  volume={65 4},
  pages={520-4}
}
BACKGROUND Hereditary spastic paraplegias (SPG1-SPG33) are characterized by progressive spastic weakness of the lower limbs. A nucleotide deletion (1110delA) in the (SPG20; OMIM 275900) spartin gene is the origin of autosomal recessive Troyer syndrome. This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients. OBJECTIVE To determine whether… CONTINUE READING