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01-06-2016 | Neurology and Preclinical Neurological Studies - Original Article

The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease

Authors: Daphne Robakis, Etty Cortes, Lorraine N. Clark, Jean Paul G. Vonsattel, Tuhin Virmani, Roy N. Alcalay, John F. Crary, Oren A. Levy

Published in: Journal of Neural Transmission | Issue 6/2016

Abstract

The H1 haplotype of the microtubule-associated protein tau gene (MAPT) is associated with an increased risk of Parkinson disease (PD) compared with the H2 haplotype, but its effect on Lewy body (LB) formation is unclear. In this study, we compared the MAPT haplotype frequency between pathologically confirmed PD patients (n = 71) and controls (n = 52). We analyzed Braak LB stage, Braak neurofibrillary tangle (NFT) stage, and CERAD amyloid score by haplotype. We further tested the association between MAPT haplotype and semi-quantitative counts of LBs, NFTs, and neuritic plaques (NPs) in multiple neocortical regions. Consistent with previous reports, PD cases had an increased likelihood of carrying an H1/H1 genotype compared to controls (OR = 5.72, 95 % CI 1.80–18.21, p = 0.003). Braak LB, Braak NFT and CERAD scores did not differ by haplotype. However, H1/H1 carriers had higher LB counts in parietal cortex (p = 0.02) and in overall neocortical LBs (p = 0.03) compared to non-H1/H1 cases. Our analyses suggest that PD patients homozygous for the H1 haplotype have a higher burden of neocortical LB pathology.

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Title: The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease
Authors: Daphne Robakis
Etty Cortes
Lorraine N. Clark
Jean Paul G. Vonsattel
Tuhin Virmani
Roy N. Alcalay
John F. Crary
Oren A. Levy
Publication date: 01-06-2016
Publisher: Springer Vienna
Published in: Journal of Neural Transmission / Issue 6/2016
Print ISSN: 0300-9564
Electronic ISSN: 1435-1463
DOI: https://doi.org/10.1007/s00702-016-1552-3

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The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease

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