Article
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Nature genetics - 1 Jul 1994
Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S
Abstract excerpt
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...
Topics
- Aphasia
- Base Sequence
- Cell Adhesion Molecules, Neuronal
- Cell Movement
- Chromosome Mapping
- DNA Mutational Analysis
- Female
- Gait
- Genes
- Humans
- Hydrocephalus
- Intellectual Disability
- Leukocyte L1 Antigen Complex
- Male
- Models, Molecular