Journal
NEUROBIOLOGY OF AGING
Volume 34, Issue 12, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2013.04.011
Keywords
LRRK2; MAPT; Parkinson's disease; TDP-43; tau
Categories
Funding
- PSP (Europe) Association Research Fellowship Grant [6AMN]
- Lung GO Sequencing Project [HL-102923]
- WHI Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- NIEHS Environmental Genome Project [HHSN273200800010C]
- Wellcome Trust/MRC Joint Call in Neurodegeneration award [WT089698]
- National Institute for Health Research (NIHR) Biomedical Research Unit in Dementia based at University College London Hospitals (UCLH), University College London (UCL)
- Medical Research Council [MR/J004758/1, G108/638, G0802760, MC_G1000735, G1001253] Funding Source: researchfish
- MRC [MR/J004758/1, G0802760, MC_G1000735, G1001253, G108/638] Funding Source: UKRI
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Leucine-rich repeat kinase 2 (LRRK2) mutation is the most common cause of genetic-related parkinsonism and is usually associated with Lewy body pathology; however, tau, alpha-synuclein, and ubiquitin pathologies have also been reported. We report the case of a patient carrying the LRRK2 G2019S mutation and a novel heterozygous variant c.370C>G, p.Q124E in exon 4 of the microtubule-associated protein tau (MAPT). The patient developed parkinsonism with good levodopa response in her 70s. Neuropathological analysis revealed nigral degeneration and Alzheimer-type tau pathology without Lewy bodies. Immunohistochemical staining using phospho-TDP-43 antibodies identified occasional TDP-43 pathology in the hippocampus, temporal neocortex, striatum, and substantia nigra. However, TDP-43 pathology was not identified in another 4 archival LRRK2 G2019S cases with Lewy body pathology available in the Queen Square Brain Bank. Among other published cases of patients carrying LRRK2 G2019S mutation, only 3 were reportedly evaluated for TDP-43 pathology, and the results were negative. The role of the MAPT variant in the clinical and pathological manifestation in LRRK2 cases remains to be determined. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved.
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