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Table of Contents
Vol. 7, No. 1-3, 2010
Issue release date: April 2010
Section title: Imaging, Biomarkers, Genetics and Diagnostic Markers
Free Access
Neurodegenerative Dis 2010;7:175–179

Leucine-Rich Repeat Kinase 2 Gene-Associated Disease: Redefining Genotype-Phenotype Correlation

Wider C.a · Dickson D.W.b · Wszolek Z.K.a
Departments of aNeurology, and bNeuropathology, Mayo Clinic, Jacksonville, Fla., USA
email Corresponding Author

Zbigniew K. Wszolek, MD

Neurology, Cannaday 2E

Mayo Clinic, 4500 San Pablo Road

Jacksonville, FL 32224 (USA)

Tel. +1 904 953 7229, Fax +1 904 953 0757, E-Mail wszolek.zbigniew@mayo.edu

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Background: Leucine-rich repeat kinase 2 (LRRK2) has emerged as the most prevalent genetic cause of Parkinson’s disease (PD) among Caucasians. Patients carrying an LRRK2 mutation display significant variability of clinical and pathologic phenotypes across and within affected families. Methods: Herein, we review available clinical and pathologic data on patients with an LRRK2 mutation who have come to autopsy. Results: Thirty-eight patients have been reported who presented clinically with PD; parkinsonism with resistance to levodopa, supranuclear gaze palsy, or autonomic dysfunction; or tremor and dementia. Pathology showed typical PD-type Lewy body disease (LBD) in most patients, whereas in others there was ‘pure’ nigral degeneration (one with TDP-43-positive inclusions), diffuse LBD, or tau-, α-synuclein- or ubiquitin-positive pathology reminiscent of progressive supranuclear gaze palsy, multisystem atrophy, and frontotemporal dementia with ubiquitin-positive inclusions. Conclusions: Such clinical and pathologic variability suggests Lrrk2 acts upstream from other proteins implicated in neurodegeneration. Specific mutations may be associated with alternative progressive supranuclear gaze palsy-like or ‘pure’ nigral degeneration phenotypes. A different effect on Lrrk2 kinase activity may play a role in such heterogeneity.

© 2010 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Imaging, Biomarkers, Genetics and Diagnostic Markers

Published online: March 03, 2010
Issue release date: April 2010

Number of Print Pages: 5
Number of Figures: 1
Number of Tables: 1

ISSN: 1660-2854 (Print)
eISSN: 1660-2862 (Online)

For additional information: http://www.karger.com/NDD

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