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The genetics and neuropathology of Parkinson's disease.
Acta Neuropathol 2012; 124(3):325-38AN

Abstract

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.

Authors+Show Affiliations

Molecular Neuroscience Department, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, Queen Square, London, UK.No affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

22806825

Citation

Houlden, Henry, and Andrew B. Singleton. "The Genetics and Neuropathology of Parkinson's Disease." Acta Neuropathologica, vol. 124, no. 3, 2012, pp. 325-38.
Houlden H, Singleton AB. The genetics and neuropathology of Parkinson's disease. Acta Neuropathol. 2012;124(3):325-38.
Houlden, H., & Singleton, A. B. (2012). The genetics and neuropathology of Parkinson's disease. Acta Neuropathologica, 124(3), pp. 325-38. doi:10.1007/s00401-012-1013-5.
Houlden H, Singleton AB. The Genetics and Neuropathology of Parkinson's Disease. Acta Neuropathol. 2012;124(3):325-38. PubMed PMID: 22806825.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The genetics and neuropathology of Parkinson's disease. AU - Houlden,Henry, AU - Singleton,Andrew B, Y1 - 2012/07/18/ PY - 2011/10/17/received PY - 2012/07/01/accepted PY - 2012/06/22/revised PY - 2012/7/19/entrez PY - 2012/7/19/pubmed PY - 2013/1/24/medline SP - 325 EP - 38 JF - Acta neuropathologica JO - Acta Neuropathol. VL - 124 IS - 3 N2 - 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. SN - 1432-0533 UR - https://www.unboundmedicine.com/medline/citation/22806825/The_genetics_and_neuropathology_of_Parkinson's_disease_ L2 - https://dx.doi.org/10.1007/s00401-012-1013-5 DB - PRIME DP - Unbound Medicine ER -