Novel mutations of the <ce:italic>SPG11</ce:italic> gene in hereditary spastic paraplegia with thin corpus callosum

@article{Liao2008NovelMO,
  title={Novel mutations of the <ce:italic>SPG11</ce:italic> gene in hereditary spastic paraplegia with thin corpus callosum},
  author={Shu-sheng Liao and Lu Shen and Juan Du and G. Zhao and Bei-sha Tang},
  journal={Journal of the Neurological Sciences},
  year={2008},
  volume={275},
  pages={92-99}
}
BACKGROUND Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci. Recently pathogenic mutations in the KIAA1840 (now named SPG11) for SPG11, the major HSP-TCC locus, were identified; at least 42 different mutations have been detected. OBJECTIVE To study the clinical features and identify the SPG11 gene mutations in Chinese patients with HSP-TCC. METHODS Three kindreds with… CONTINUE READING

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