Reelin and stroke

In 1951, Falconer reported the spontaneous occurrence of a disorder that produced ataxia, incoordination, and tremor in mice, and which came to be designated the reeler phenotype (Falconer, 1951). These mice showed neuropathological changes consisting of malpositioned neurons in a variety of brain regions, including cerebral neocortex, hippocampus, and cerebellum (D'Arcangelo et al., 1995). The gene defect was discovered subsequently to affect reelin (Reln), a serine protease produced by developing neurons and found in the extracellular matrix (ECM). Reln expression regulates the migration and settling of central neurons in the developing brain (Tissir and Goffinet, 2003) and spinal cord (Yip et al., 2000). Mutations in the RELN gene on chromosome 7q22 in patients account for rare cases of autosomal recessive, Norman-Roberts type lissencephaly with developmental delay, epilepsy, and nystagmus (Hong et al., 2000). At least two allelic variants have been reported: a splice acceptor site mutation (IVS37AS, G-A, -1) and an exon deletion (EX43 DEL).