Paralysis Research Today is a free monthly online journal that collates and summarizes the latest research about Paralysis, including details on treatment, diagnosis, facial paralysis, sleep paralysis.

Lrrk2 R1441 substitution and progressive supranuclear palsy.

Ross OA, Whittle AJ, Cobb SA, Hulihan MM, Lincoln SJ, Toft M, Farrer MJ, Dickson DW

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA. ross.owen@mayo.edu

Mutation of the LRRK2 gene has been associated with autosomal dominant parkinsonism. An R1441C pathogenic substitution was identified in Family D, a large Western Nebraskan kindred, with four members demonstrating pleomorphic pathology at autopsy. One member of this family displayed tau pathology suggestive of progressive supranuclear palsy (PSP). To evaluate the influence of mutation at the R1441 residue in this disorder we screened a series of 242 pathologically confirmed PSP cases. No evidence was found for the presence of a mutation at this codon in our series. These data would suggest that this Lrrk2 variant does not contribute in susceptibility to PSP.

Published 13 January 2006 in Neuropathol Appl Neurobiol, 32(1): 23-5.
Full-text of this article is available online (may require subscription).

© 2004-2008 Paralysis Research Today. All Rights Reserved.