Lrrk2 R1441 substitution and progressive supranuclear palsy.

Abstract:

: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.

authors

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

doi

10.1111/j.1365-2990.2006.00693.x

keywords:

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

23-5

issue

1

eissn

0305-1846

issn

1365-2990

pii

NAN693

journal_volume

32

pub_type

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