 | |  | |  | |  | |  | |  | |  | |  |
| IJCEP Copyright © 2007-All rights reserved. |
| International Journal of Clinical and Experimental Pathology |
Int J Clin Exp Pathol 1(3):217-231;2008
Review Article
Genetic Neuropathology of Parkinson’s disease
Mark R Cookson, John Hardy and Patrick A Lewis
Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive, Bethesda MD 20892-3707, USA; Reta Lilla Weston
Laboratories and Dept of Molecular Neuroscience, Institute of Neurology UCL, Queen Square, London WC1N 3BG, UK
Received 31 Aug 2007; accepted and available online 1 January 2008
Abstract: Parkinson’s disease (PD) has long been thought of as a sporadic entity, perhaps with an environmental etiology. However,
recent genetic discoveries have challenged this view, as there are many families with Mendelian inheritance of diseases that clinically
resemble PD. Here, we will review in detail the neuropathological data relating to familial cases of PD. We will discuss the complicated
relationships between the genetically defined cases and the two key pathological events seen in PD, namely loss of dopaminergic
neurons in the substantia nigra pars compacts and the formation of protein inclusions, Lewy bodies, in the neurons that survive to the
end stage of the disease course. These observations will be synthesized into an overall scheme that emphasizes the two key aspects of
the neuropathology as distinct events and suggest that each gene tells us something a little different about the neuropathology of PD.
(IJCEP708017).
Key Words: Parkinson’s disease; parkinsonism; alpha-synuclein; LRRK2; parkin; tau; neuropathology
Full Text PDF
Address all correspondences to: Mark R. Cookson, PhD, Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive,
Bethesda, MD 20892-3707, USA. Tel: 301-451-3870; Fax: 301-480-0335; Email: cookson@mail.nih.gov
Review Article
Genetic Neuropathology of Parkinson’s disease
Mark R Cookson, John Hardy and Patrick A Lewis
Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive, Bethesda MD 20892-3707, USA; Reta Lilla Weston
Laboratories and Dept of Molecular Neuroscience, Institute of Neurology UCL, Queen Square, London WC1N 3BG, UK
Received 31 Aug 2007; accepted and available online 1 January 2008
Abstract: Parkinson’s disease (PD) has long been thought of as a sporadic entity, perhaps with an environmental etiology. However,
recent genetic discoveries have challenged this view, as there are many families with Mendelian inheritance of diseases that clinically
resemble PD. Here, we will review in detail the neuropathological data relating to familial cases of PD. We will discuss the complicated
relationships between the genetically defined cases and the two key pathological events seen in PD, namely loss of dopaminergic
neurons in the substantia nigra pars compacts and the formation of protein inclusions, Lewy bodies, in the neurons that survive to the
end stage of the disease course. These observations will be synthesized into an overall scheme that emphasizes the two key aspects of
the neuropathology as distinct events and suggest that each gene tells us something a little different about the neuropathology of PD.
(IJCEP708017).
Key Words: Parkinson’s disease; parkinsonism; alpha-synuclein; LRRK2; parkin; tau; neuropathology
Full Text PDF
Address all correspondences to: Mark R. Cookson, PhD, Laboratory of Neurogenetics, National Institute on Aging, 35 Convent Drive,
Bethesda, MD 20892-3707, USA. Tel: 301-451-3870; Fax: 301-480-0335; Email: cookson@mail.nih.gov