X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

@article{Jouet1994XlinkedSP,
  title={X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene},
  author={Monique Jouet and Andr{\'e} Rosenthal and Giles Armstrong and John MacFarlane and Roger Stevenson and Joan Paterson and A Metzenberg and V. Ionasescu and Karen I Temple and Susan Kenwrick},
  journal={Nature Genetics},
  year={1994},
  volume={7},
  pages={402-407}
}
X–linked hydrocephalus, spastic paraplegia type I and MASA syndrome are related disorders with loci in subchromosomal region Xq28. We have previously shown that X–linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM), an axonal glycoprotein involved in neuronal migration and differentiation. Here we report mutations of the L1 gene in MASA syndrome and SPG1, in addition to HSAS families. Two of the HSAS mutations would abolish cell surface… CONTINUE READING

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