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Parkinson disease

Reviewed July 2007

What is Parkinson disease?

Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, including an area called the substantia nigra that controls balance and movement. Parkinson disease may also affect regions of the brain that regulate involuntary functions such as blood pressure and heart activity.

Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms include rigidity or stiffness of the limbs and trunk, slow movement (bradykinesia) or the inability to move (akinesia), and impaired balance and coordination (postural instability).

Many Parkinson disease symptoms occur when nerve cells (neurons) in the substantia nigra die or become impaired. Normally, these cells produce a chemical messenger called dopamine, which transmits signals within the brain to produce smooth physical movements. When these dopamine-producing neurons die or become impaired, communication between the brain and muscles weakens, and eventually, the brain is unable to control muscle movement. In most cases of Parkinson disease, protein deposits called Lewy bodies appear in dead or dying dopamine-producing neurons. (Cases without Lewy bodies are sometimes referred to as parkinsonism instead of Parkinson disease.) It is unclear whether Lewy bodies play a role in killing nerve cells, or if they are part of a protective process.

Generally, Parkinson disease that begins after age 50 years is called late onset disease. It is known as early onset disease if signs and symptoms begin before age 50. Cases that begin before age 20 are sometimes referred to as juvenile onset Parkinson disease.

How common is Parkinson disease?

Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people and about 50,000 new cases are identified each year. The number of cases is rising with the increasing age of the general population.

What genes are related to Parkinson disease?

Mutations in the LRRK2, PARK2, PARK7, PINK1, and SNCA genes cause Parkinson disease.

The GBA, SNCAIP, and UCHL1 genes are associated with Parkinson disease.

Most cases of Parkinson disease are classified as sporadic and occur in people with no apparent history of the disorder in their family. Although the cause of these cases remains unclear, sporadic cases probably result from a complex interaction of environmental and genetic factors. Additionally, certain drugs may cause Parkinson-like symptoms.

Approximately 15 percent of people with Parkinson disease have a family history of this disorder. These familial cases are caused by mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene, or by alterations in genes that have not been identified. Mutations in some of these genes may also play a role in cases that appear to be sporadic.

It is not fully understood how mutations in the LRRK2, PARK2, PARK7, PINK1, or SNCA gene cause Parkinson disease. Some mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins. As a result, undegraded proteins accumulate, leading to the impairment or death of dopamine-producing neurons. Other mutations may involve mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules, called free radicals, that can damage the cell. Normally, the cell neutralizes free radicals, but some gene mutations may disrupt this neutralization process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons.

In some families, alterations in the GBA, SNCAIP, or UCHL1 gene appear to modify the risk of developing Parkinson disease. Researchers have identified some genetic changes that may reduce the risk of developing the disease, while other gene alterations seem to increase the risk.

How do people inherit Parkinson disease?

Most cases of Parkinson disease occur in people with no family history of the disorder. The inheritance pattern, if any, is unknown.

Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the LRRK2 or SNCA gene is involved, the disorder is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder.

Parkinson disease is inherited in an autosomal recessive pattern if the PARK2, PARK7, or PINK1 gene is involved. This type of inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with autosomal recessive Parkinson disease each carry one copy of the altered gene but do not show signs and symptoms of the disorder.

The inheritance pattern is unclear when an increased risk of Parkinson disease or parkinsonism is associated with mutations in the GBA gene.

SNCAIP and UCHL1 mutations have been identified in just a few individuals. It is unclear whether these mutations are related to Parkinson disease, and the inheritance pattern is unknown.

Where can I find information about treatment for Parkinson disease?

You may find information on treatment or management of Parkinson disease or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about Parkinson disease?

You may find the following resources about Parkinson disease helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Parkinson's disease (http://www.nlm.nih.gov/medlineplus/ency/article/000755.htm)
    • Encyclopedia: Parkinson's disease - resources (http://www.nlm.nih.gov/medlineplus/ency/article/002196.htm)
    • Health Topic: Lewy Body Disease (http://www.nlm.nih.gov/medlineplus/lewybodydisease.html)
    • Health Topic: Parkinson's Disease (http://www.nlm.nih.gov/medlineplus/parkinsonsdisease.html)
  • Additional NIH Resources - National Institutes of Health
    • National Center for Biotechnology Information: Genes and Disease (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.212)
    • National Human Genome Research Institute: Learning About Parkinson's Disease (http://www.genome.gov/page.cfm?pageID=10001217)
    • National Institute of Environmental Health Sciences: Role of the Environment in Parkinson's Disease (http://www.niehs.nih.gov/health/topics/conditions/parkinson/index.cfm)
    • National Institute of Neurological Disorders and Stroke: Backgrounder (http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease_backgrounder.htm)
    • National Institute of Neurological Disorders and Stroke: Challenges, Progress, and Promise (http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_research.htm)
    • National Institute of Neurological Disorders and Stroke: Deep Brain Stimulation for Parkinson's Disease (http://www.ninds.nih.gov/disorders/deep_brain_stimulation/deep_brain_stimulation.htm)
    • National Institute of Neurological Disorders and Stroke: Hope Through Research (http://www.ninds.nih.gov/disorders/parkinsons_disease/detail_parkinsons_disease.htm)
    • National Institute of Neurological Disorders and Stroke: Information Page (http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease.htm)
    • National Institute of Neurological Disorders and Stroke: Life and Death of a Neuron (http://www.ninds.nih.gov/disorders/brain_basics/ninds_neuron.htm)
    • National Institute of Neurological Disorders and Stroke: NIH SeniorHealth (http://nihseniorhealth.gov/parkinsonsdisease/toc.html)
    • National Institutes of Neurological Disorders and Stroke: Diagnosis of Depression in Parkinson's Disease (http://www.ninds.nih.gov/news_and_events/proceedings/depression_summary.htm)
    • National Institutes of Neurological Disorders and Stroke: Parkinson's Disease Research Web (http://www.ninds.nih.gov/funding/research/parkinsonsweb/index.htm)
  • Educational resources - Information pages
    • Centre for Genetics Education (Australia) (http://www.genetics.com.au/pdf/factsheets/fs46.pdf)
    • Duke Center for Human Genetics (http://www.chg.duke.edu/diseases/pd.html)
    • Madisons Foundation: Juvenile Parkinson's Disease (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,453/)
    • Madisons Foundation: Young Onset Parkinson's Disease (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,479/)
    • Mayo Clinic (http://www.mayoclinic.org/parkinsons-disease/index.html)
    • National Highway Traffic Safety Administration (http://www.nhtsa.dot.gov/people/injury/olddrive/Parkinsons%20Web/index.html)
    • Nemours Foundation: Kids Health (http://kidshealth.org/kid/grownup/conditions/parkinson.html)
    • New York Online Access to Health (NOAH) (http://www.noah-health.org/en/bns/disorders/parkinson/index.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2828)
  • Patient support - For patients and families
    • American Parkinson Disease Association (http://www.apdaparkinson.org/)
    • Bachmann-Strauss Dystonia and Parkinson Foundation (http://www.dystonia-parkinsons.org/)
    • Family Village (http://www.familyvillage.wisc.edu/lib_parkinson.html)
    • Michael J. Fox Foundation for Parkinson's Research (http://www.michaeljfox.org/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Parkinson's+Disease)
    • Parkinson's Action Network (http://www.parkinsonsaction.org/)
    • Parkinson's Disease Foundation (http://www.pdf.org/en/about_pd)
    • Parkinson's Resource Organization (http://www.parkinsonsresource.org)
    • The Parkinson's Institute (http://www.parkinsonsinstitute.org/)
    • The Parkinson Alliance (http://www.parkinsonalliance.net/)
    • We Move (http://www.wemove.org/par/default.htm)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary
    • Gene Review: LRRK2-Related Parkinson Disease (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lrrk2)
    • Gene Review: Parkinson Disease Overview (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=parkinson-overview)
    • Gene Review: Parkin Type of Juvenile Parkinson Disease (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=jpd)
  • Gene Tests - DNA tests ordered by healthcare professionals
    • Gene Tests: DJ-1-Related Parkinson Disease (http://www.genetests.org/query?testid=275777)
    • Gene Tests: LRRK2-Related Parkinson Disease (http://www.genetests.org/query?testid=250809)
    • Gene Tests: Parkin Type of Juvenile Parkinson Disease (http://www.genetests.org/query?testid=54102)
    • Gene Tests: PINK1-Related Parkinson Disease (http://www.genetests.org/query?testid=266246)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22parkinson+disease%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Parkinson+Disease[MAJR])+AND+(Parkinson+disease[TIAB])+AND+review[pt]+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1440+Days)
  • OMIM - Genetic disorder catalog
    • OMIM: Parkinson disease (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168600)
    • OMIM: Parkinson disease, familial, type 1 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168601)
    • OMIM: Parkinson disease, juvenile, autosomal recessive (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600116)
    • OMIM: Parkinson disease 4, autosomal dominant Lewy body (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605543)
    • OMIM: Parkinson disease 6, autosomal recessive early-onset (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605909)
    • OMIM: Parkinson disease 7, autosomal recessive early-onset (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606324)
    • OMIM: Parkinson disease 8 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607060)

What other names do people use for Parkinson disease?

  • PD
  • Primary Parkinsonism

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Parkinson disease?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Parkinson disease?

akinesia ; autosomal ; autosomal dominant ; autosomal recessive ; bradykinesia ; cell ; dopamine ; familial ; family history ; free radicals ; gene ; inheritance ; inheritance pattern ; involuntary ; juvenile ; Lewy bodies ; mitochondria ; molecule ; motor ; mutation ; nerve cell ; nervous system ; neuron ; parkinsonism ; population ; protein ; recessive ; sign ; sporadic ; substantia nigra ; symptom ; tau proteins ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Abou-Sleiman PM, Muqit MM, Wood NW. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci. 2006 Mar;7(3):207-19. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16495942)
  • Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet. 2006 Apr;7(4):306-18. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16543934)
  • Gasser T. Genetics of Parkinson's disease. Curr Opin Neurol. 2005 Aug;18(4):363-9. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16003110)
  • Gene Review: Parkinson Disease Overview (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=parkinson-overview)
  • Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A. Genetics of Parkinson's disease and parkinsonism. Ann Neurol. 2006 Oct;60(4):389-98. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17068789)
  • Huang Y, Cheung L, Rowe D, Halliday G. Genetic contributions to Parkinson's disease. Brain Res Brain Res Rev. 2004 Aug;46(1):44-70. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15297154)
  • Jain S, Wood NW, Healy DG. Molecular genetic pathways in Parkinson's disease: a review. Clin Sci (Lond). 2005 Oct;109(4):355-64. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16171459)
  • Lewthwaite AJ, Nicholl DJ. Genetics of parkinsonism. Curr Neurol Neurosci Rep. 2005 Sep;5(5):397-404. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16131423)
  • Morris HR. Genetics of Parkinson's disease. Ann Med. 2005;37(2):86-96. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16026116)
  • National Institute of Neurological Disorders and Stroke: Backgrounder (http://www.ninds.nih.gov/disorders/parkinsons_disease/parkinsons_disease_backgrounder.htm)
  • Pankratz N, Foroud T. Genetics of Parkinson Disease. Neurorx. 2004 Apr;1(2):235-242. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15717024)
  • Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet. 2004 May 29;363(9423):1783-93. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15172778)
  • Singleton AB. Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. Trends Neurosci. 2005 Aug;28(8):416-21. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15955578)
  • Tan EK, Skipper LM. Pathogenic mutations in Parkinson disease. Hum Mutat. 2007 Mar 26; [Epub ahead of print]. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17385668)
  • Van Den Eeden SK, Tanner CM, Bernstein AL, Fross RD, Leimpeter A, Bloch DA, Nelson LM. Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity. Am J Epidemiol. 2003 Jun 1;157(11):1015-22. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12777365)
  • Vila M, Przedborski S. Genetic clues to the pathogenesis of Parkinson's disease. Nat Med. 2004 Jul;10 Suppl:S58-62. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15272270)
  • von Bohlen und Halbach O, Schober A, Krieglstein K. Genes, proteins, and neurotoxins involved in Parkinson's disease. Prog Neurobiol. 2004 Jun;73(3):151-77. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15236834)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2007
Published: January 12, 2009