CasprI/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies

Contactin associated protein 1 (Caspr1/Paranodin/Neurexin IV) is an axonal transmembrane molecule mainly localised at the paranodal junction. Since molecular alterations in septate-like junctions at the paranodes might have important consequences for the function of the nerve fiber, we considered that Caspr 1 could be involved in the pathogenesis of inherited peripheral neuropathies. In this study, we physically mapped the Caspi-1 gene on chromosome 17q21.1 and determined its genomic structure. We performed a mutation analysis of the Caspr1 gene in a cohort of 64 unrelated patients afflicted with distinct inherited peripheral neuropathies. Since no disease causing mutations were found, we suggest that Caspr1 is probably not a common cause of inherited peripheral neuropathies. NeuroReport 12:2609-2614 (C) 2001 Lippincott Williams & Wilkins.