A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

@article{Tarrade2006AMO,
  title={A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.},
  author={Anne Tarrade and Coralie Fassier and Sabrina Courageot and Delphine Charvin and J{\'e}r{\'e}mie Vitte and Leticia Peris and Alain Thorel and Etienne Mouisel and N{\'u}ria Fonknechten and Natacha Roblot and Danielle Seilhean and Andr{\'e}e Di{\'e}rich and Jean Jacques Hauw and Judith Melki},
  journal={Human molecular genetics},
  year={2006},
  volume={15 24},
  pages={3544-58}
}
Mutations of the spastin gene (Sp) are responsible for the most frequent autosomal dominant form of spastic paraplegia, a disease characterized by the degeneration of corticospinal tracts. We show that a deletion in the mouse Sp gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The degenerative process is characterized by focal axonal swellings, associated with abnormal… CONTINUE READING
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