L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.

doi:10.1016/s0387-7604(97)00079-x

Back to search

Article

L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.

Brain & development - 1 Dec 1997

Takahashi S, Makita Y, Okamoto N, Miyamoto A, Oki J

Abstract excerpt

Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to stenosis of the aqueduct of Sylvius), MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. We exam...

Topics

Child
Gene Deletion
Genetic Counseling
Genetic Linkage
Humans
Hydrocephalus
Leukocyte L1 Antigen Complex
Magnetic Resonance Imaging
Male
Mutation
Neural Cell Adhesion Molecules
Pedigree
Polymerase Chain Reaction
X Chromosome

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.