Characterization of a novel SPG3A deletion in a French-Canadian family.

@article{Meijer2007CharacterizationOA,
  title={Characterization of a novel SPG3A deletion in a French-Canadian family.},
  author={Inge Anita Meijer and Patrick Dion and Sandra Laurent and Nicolas Dupre and Bernard Brais and A. Simon Levert and Jacques Puymirat and Marie France Rioux and Michel Sylvain and Prema Latha Zhu and Cynthia Soderblom and Julia Stadler and Craig Anthony Blackstone and Guy A Rouleau},
  journal={Annals of neurology},
  year={2007},
  volume={61 6},
  pages={
          599-603
        }
}
Hereditary spastic paraplegias (HSPs) are characterized by progressive lower limb spasticity and weakness. Mutations in the SPG3A gene, which encodes the large guanosine triphosphatase atlastin, are the second most common cause of autosomal dominant hereditary spastic paraplegia. In a large SPG3A screen of 70 hereditary spastic paraplegia subjects, a novel in-frame deletion, p.del436N, was identified. Characterization of this deletion showed that it affects neither the guanosine triphosphatase… CONTINUE READING
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