G2Cdb::Human Disease report

Disease id
D00000211
Name
Spastic paraplegia
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (9452098) Splice site mutation (SpS) Y

References

  • Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree.

    Claes S, Aguirre T, Simosa V, Bustos T, Lander R, Piras M, Legius E, Cassiman JJ and Raeymaekers P

    Center for Human Genetics, University of Leuven, Belgium.

    Human mutation 1998;Suppl 1;S240-1

Literature (1)

Pubmed - human_disease

  • Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree.

    Claes S, Aguirre T, Simosa V, Bustos T, Lander R, Piras M, Legius E, Cassiman JJ and Raeymaekers P

    Center for Human Genetics, University of Leuven, Belgium.

    Human mutation 1998;Suppl 1;S240-1

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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