The genetics and neuropathology of Parkinson’s disease

There has been tremendous progress toward understanding the genetic basis of Parkinson’s disease and related movement disorders. We summarize the genetic, clinical and pathological findings of autosomal dominant disease linked to mutations in SNCA , LRRK2 , ATXN2 , ATXN3 , MAPT, GCH1, DCTN1 and VPS3...

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Published in:Acta neuropathologica Vol. 124; no. 3; pp. 325 - 338
Main Authors: Houlden, Henry, Singleton, Andrew B.
Format: Journal Article
Language:English
Published: Berlin/Heidelberg Springer-Verlag 01.09.2012
Springer
Springer Nature B.V
Subjects:
alpha-Synuclein - genetics
Brain - pathology
Genetic Predisposition to Disease
Genome-Wide Association Study
Genomics
Humans
LRRK2 protein
Medicine
Medicine & Public Health
Movement disorders
Mutation
Neurodegenerative diseases
Neuropathology
Neurosciences
PARK7 protein
Parkinson Disease - genetics
Parkinson Disease - pathology
Parkinson's disease
Pathology
PTEN-induced putative kinase
Review
Reviews
Ubiquitin-Protein Ligases - genetics
Pathology
Genetics
Synuclein
Parkinson’s disease
ISSN:0001-6322, 1432-0533, 1432-0533
Online Access:Get full text
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Summary:There has been tremendous progress toward understanding the genetic basis of Parkinson’s disease and related movement disorders. We summarize the genetic, clinical and pathological findings of autosomal dominant disease linked to mutations in SNCA , LRRK2 , ATXN2 , ATXN3 , MAPT, GCH1, DCTN1 and VPS35 . We then discuss the identification of mutations in PARK2 , PARK7 , PINK1 , ATP13A2 , FBXO7 , PANK2 and PLA2G6 genes. In particular we discuss the clinical and pathological characterization of these forms of disease, where neuropathology has been important in the likely coalescence of pathways highly relevant to typical PD. In addition to the identification of the causes of monogenic forms of PD, significant progress has been made in defining genetic risk loci for PD; we discuss these here, including both risk variants at LRRK2 and GBA , in addition to discussing the results of recent genome-wide association studies and their implications for PD. Finally, we discuss the likely path of genetic discovery in PD over the coming period and the implications of these findings from a clinical and etiological perspective.
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ISSN:0001-6322
1432-0533
1432-0533
DOI:10.1007/s00401-012-1013-5