Genetics of Parkinson's Disease

Owen A Ross, Adam T. Braithwaite, Matthew J. Farrer

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Citations (Scopus)

Abstract

This chapter presents an overview of the genetics of Parkinson's disease (PD). Parkinsonism is clinically characterized by the triad of tremor, rigidity, and bradykinesia. PD is the most common cause of Parkinsonism and the second most prevalent neurodegenerative disorder after Alzheimer's disease. Earlier, PD was thought to have no genetic basis, and epidemiological data appeared to support this view. Cross-sectional studies also suggested that either there is no genetic basis, or that it is only evident in early-onset PD. Differing disease concordance rates between monozygotic and dizygotic twins in longitudinal studies including those using 18F-dopa positron emission tomography support heritability in PD. Studies show that Parkin mutations usually occur either as homozygous or compound heterozygous mutations (with different mutations in both alleles). However, many have been reported in which, despite extensive screening, only one of the alleles appears to be mutated. This chapter starts with a discussion on genetics of familial Parkinson's disease and then explains the term Parkinsonism-plus genes. The chapter concludes with explaining sporadic PD, genetic associations, and familial genes.

Original languageEnglish (US)
Title of host publicationParkinson's Disease
PublisherElsevier Inc.
Pages9-33
Number of pages25
ISBN (Print)9780123740281
DOIs
StatePublished - 2008

Fingerprint

Inborn Genetic Diseases
Parkinson Disease
Parkinsonian Disorders
Mutation
Alleles
Dizygotic Twins
Hypokinesia
Dihydroxyphenylalanine
Monozygotic Twins
Tremor
Neurodegenerative Diseases
Positron-Emission Tomography
Genes
Longitudinal Studies
Alzheimer Disease
Cross-Sectional Studies

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ross, O. A., Braithwaite, A. T., & Farrer, M. J. (2008). Genetics of Parkinson's Disease. In Parkinson's Disease (pp. 9-33). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-374028-1.00002-6

Genetics of Parkinson's Disease. / Ross, Owen A; Braithwaite, Adam T.; Farrer, Matthew J.

Parkinson's Disease. Elsevier Inc., 2008. p. 9-33.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ross, OA, Braithwaite, AT & Farrer, MJ 2008, Genetics of Parkinson's Disease. in Parkinson's Disease. Elsevier Inc., pp. 9-33. https://doi.org/10.1016/B978-0-12-374028-1.00002-6
Ross OA, Braithwaite AT, Farrer MJ. Genetics of Parkinson's Disease. In Parkinson's Disease. Elsevier Inc. 2008. p. 9-33 https://doi.org/10.1016/B978-0-12-374028-1.00002-6
Ross, Owen A ; Braithwaite, Adam T. ; Farrer, Matthew J. / Genetics of Parkinson's Disease. Parkinson's Disease. Elsevier Inc., 2008. pp. 9-33
@inbook{745cfa5c58ac46d6b4d6b0475c73fade,
title = "Genetics of Parkinson's Disease",
abstract = "This chapter presents an overview of the genetics of Parkinson's disease (PD). Parkinsonism is clinically characterized by the triad of tremor, rigidity, and bradykinesia. PD is the most common cause of Parkinsonism and the second most prevalent neurodegenerative disorder after Alzheimer's disease. Earlier, PD was thought to have no genetic basis, and epidemiological data appeared to support this view. Cross-sectional studies also suggested that either there is no genetic basis, or that it is only evident in early-onset PD. Differing disease concordance rates between monozygotic and dizygotic twins in longitudinal studies including those using 18F-dopa positron emission tomography support heritability in PD. Studies show that Parkin mutations usually occur either as homozygous or compound heterozygous mutations (with different mutations in both alleles). However, many have been reported in which, despite extensive screening, only one of the alleles appears to be mutated. This chapter starts with a discussion on genetics of familial Parkinson's disease and then explains the term Parkinsonism-plus genes. The chapter concludes with explaining sporadic PD, genetic associations, and familial genes.",
author = "Ross, {Owen A} and Braithwaite, {Adam T.} and Farrer, {Matthew J.}",
year = "2008",
doi = "10.1016/B978-0-12-374028-1.00002-6",
language = "English (US)",
isbn = "9780123740281",
pages = "9--33",
booktitle = "Parkinson's Disease",
publisher = "Elsevier Inc.",

}

TY - CHAP

T1 - Genetics of Parkinson's Disease

AU - Ross, Owen A

AU - Braithwaite, Adam T.

AU - Farrer, Matthew J.

PY - 2008

Y1 - 2008

N2 - This chapter presents an overview of the genetics of Parkinson's disease (PD). Parkinsonism is clinically characterized by the triad of tremor, rigidity, and bradykinesia. PD is the most common cause of Parkinsonism and the second most prevalent neurodegenerative disorder after Alzheimer's disease. Earlier, PD was thought to have no genetic basis, and epidemiological data appeared to support this view. Cross-sectional studies also suggested that either there is no genetic basis, or that it is only evident in early-onset PD. Differing disease concordance rates between monozygotic and dizygotic twins in longitudinal studies including those using 18F-dopa positron emission tomography support heritability in PD. Studies show that Parkin mutations usually occur either as homozygous or compound heterozygous mutations (with different mutations in both alleles). However, many have been reported in which, despite extensive screening, only one of the alleles appears to be mutated. This chapter starts with a discussion on genetics of familial Parkinson's disease and then explains the term Parkinsonism-plus genes. The chapter concludes with explaining sporadic PD, genetic associations, and familial genes.

AB - This chapter presents an overview of the genetics of Parkinson's disease (PD). Parkinsonism is clinically characterized by the triad of tremor, rigidity, and bradykinesia. PD is the most common cause of Parkinsonism and the second most prevalent neurodegenerative disorder after Alzheimer's disease. Earlier, PD was thought to have no genetic basis, and epidemiological data appeared to support this view. Cross-sectional studies also suggested that either there is no genetic basis, or that it is only evident in early-onset PD. Differing disease concordance rates between monozygotic and dizygotic twins in longitudinal studies including those using 18F-dopa positron emission tomography support heritability in PD. Studies show that Parkin mutations usually occur either as homozygous or compound heterozygous mutations (with different mutations in both alleles). However, many have been reported in which, despite extensive screening, only one of the alleles appears to be mutated. This chapter starts with a discussion on genetics of familial Parkinson's disease and then explains the term Parkinsonism-plus genes. The chapter concludes with explaining sporadic PD, genetic associations, and familial genes.

UR - http://www.scopus.com/inward/record.url?scp=58549112497&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=58549112497&partnerID=8YFLogxK

U2 - 10.1016/B978-0-12-374028-1.00002-6

DO - 10.1016/B978-0-12-374028-1.00002-6

M3 - Chapter

SN - 9780123740281

SP - 9

EP - 33

BT - Parkinson's Disease

PB - Elsevier Inc.

ER -