Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

@article{Hentati2000NovelMI,
  title={Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.},
  author={Afif Hentati and Han Xiang Deng and Hong Zhai and Wan-Jin Chen and Yu-Chung Yang and W Y Hung and Anser C. Azim and Saeed Bohlega and R. K. Tandan and Christy Warner and Nigel G Laing and Franca Cambi and Hiroshi Mitsumoto and Raymond P. Roos and R M Boustany and Mongi Ben Hamida and Fayçal Hentati and Teepu Siddique},
  journal={Neurology},
  year={2000},
  volume={55 9},
  pages={1388-90}
}
Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis. Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22. We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant… CONTINUE READING

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