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Genetics Home Reference: your guide to understanding genetic conditions
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Parkinson disease

Reviewed May 2012

What is Parkinson disease?

Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.

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 of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.

Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.

Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset 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 60,000 new cases are identified each year.

The late-onset form is the most common type of Parkinson disease, and the risk of developing this condition increases with age. Because more people are living longer, the number of people with this disease is expected to increase in coming decades.

What genes are related to Parkinson disease?

Most cases of Parkinson disease probably result from a complex interaction of environmental and genetic factors. These cases are classified as sporadic and occur in people with no apparent history of the disorder in their family. The cause of these sporadic cases remains unclear.

Approximately 15 percent of people with Parkinson disease have a family history of this disorder. Familial cases of Parkinson disease can be 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 (not inherited).

Alterations in certain genes, including GBA and UCHL1, do not cause Parkinson disease but appear to modify the risk of developing the condition in some families. Variations in other genes that have not been identified probably also contribute to Parkinson disease risk.

It is not fully understood how genetic changes cause Parkinson disease or influence the risk of developing the disorder. 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 are damaged or die, communication between the brain and muscles weakens. Eventually, the brain becomes unable to control muscle movement.

Some gene mutations appear to disturb the cell machinery that breaks down (degrades) unwanted proteins in dopamine-producing neurons. As a result, undegraded proteins accumulate, leading to the impairment or death of these cells. Other mutations may affect the function of mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules called free radicals that can damage cells. Cells normally counteract the effects of free radicals before they cause damage, but mutations can disrupt this process. As a result, free radicals may accumulate and impair or kill dopamine-producing neurons.

In most cases of Parkinson disease, protein deposits called Lewy bodies appear in dead or dying dopamine-producing neurons. (When Lewy bodies are not present, the condition is sometimes referred to as parkinsonism.) It is unclear whether Lewy bodies play a role in killing nerve cells or if they are part of the cells' response to the disease.

Related Gene(s)

Changes in these genes are associated with Parkinson disease.

  • ATP13A2
  • GBA
  • LRRK2
  • PARK2
  • PARK7
  • PINK1
  • SNCA
  • UCHL1
  • VPS35

How do people inherit Parkinson disease?

Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that 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. In most cases, an affected person has one parent with the condition.

If the PARK2, PARK7, or PINK1 gene is involved, Parkinson disease is inherited in an autosomal recessive pattern. 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.

When genetic alterations modify the risk of developing Parkinson disease, the inheritance pattern is usually unknown.

Where can I find information about diagnosis or management of Parkinson disease?

These resources address the diagnosis or management of Parkinson disease and may include treatment providers.

  • Gene Review: Parkinson Disease Overview (http://www.ncbi.nlm.nih.gov/books/NBK1223)
  • Genetic Testing Registry: Parkinson's disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0030567)
  • Genetic Testing Registry: Parkinson disease, mitochondrial (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1838867)
  • Genetic Testing Registry: Parkinson disease 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1868595)
  • Genetic Testing Registry: Parkinson disease 10 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1847360)
  • Genetic Testing Registry: Parkinson disease 11 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1843211)
  • Genetic Testing Registry: Parkinson disease 12 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1845165)
  • Genetic Testing Registry: Parkinson disease 13 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853202)
  • Genetic Testing Registry: Parkinson disease 14 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751842)
  • Genetic Testing Registry: Parkinson disease 15 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1850100)
  • Genetic Testing Registry: Parkinson disease 16 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751012)
  • Genetic Testing Registry: Parkinson disease 17 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3280133)
  • Genetic Testing Registry: Parkinson disease 18 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3280271)
  • Genetic Testing Registry: Parkinson disease 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1868675)
  • Genetic Testing Registry: Parkinson disease 3 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1865581)
  • Genetic Testing Registry: Parkinson disease 4 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1854182)
  • Genetic Testing Registry: Parkinson disease 5 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C3150899)
  • Genetic Testing Registry: Parkinson disease 6, autosomal recessive early-onset (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853833)
  • Genetic Testing Registry: Parkinson disease 7 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853445)
  • Genetic Testing Registry: Parkinson disease 8, autosomal dominant (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1846862)
  • MedlinePlus Encyclopedia: Parkinson's Disease (http://www.nlm.nih.gov/medlineplus/ency/article/000755.htm)
  • Michael J. Fox Foundation for Parkinson's Research: What Drugs Are Used to Treat Parkinson's Disease and How Do They Work? (https://www.michaeljfox.org/understanding-parkinsons/living-with-pd/topic.php?medication)
  • 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)
  • Parkinson's Disease Foundation: Diagnosis (http://www.pdf.org/en/diagnosis)
  • Parkinson's Disease Foundation: Medications & Treatments (http://www.pdf.org/en/meds_treatments)

You might also find information on the diagnosis or management of Parkinson disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/parkinson-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/parkinson-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

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.

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

What other names do people use for Parkinson disease?

  • Parkinson's disease
  • PD
  • primary parkinsonism

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and 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?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Parkinson disease?

akinesia ; autosomal ; autosomal dominant ; autosomal recessive ; bradykinesia ; cell ; cognition ; dementia ; depression ; dopamine ; familial ; family history ; free radicals ; gene ; hallucinations ; inheritance ; inheritance pattern ; inherited ; juvenile ; Lewy bodies ; mitochondria ; motor ; nervous system ; parkinsonism ; protein ; recessive ; sporadic ; substantia nigra ; symptom ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16495942?dopt=Abstract)
  • Cookson MR, Bandmann O. Parkinson's disease: insights from pathways. Hum Mol Genet. 2010 Apr 15;19(R1):R21-7. doi: 10.1093/hmg/ddq167. Epub 2010 Apr 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20421364?dopt=Abstract)
  • Corti O, Lesage S, Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev. 2011 Oct;91(4):1161-218. doi: 10.1152/physrev.00022.2010. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22013209?dopt=Abstract)
  • Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet. 2006 Apr;7(4):306-18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16543934?dopt=Abstract)
  • Gasser T. Genetics of Parkinson's disease. Curr Opin Neurol. 2005 Aug;18(4):363-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16003110?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17068789?dopt=Abstract)
  • 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/pubmed/15297154?dopt=Abstract)
  • 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/pubmed/16171459?dopt=Abstract)
  • Klein C, Schneider SA, Lang AE. Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond. Mov Disord. 2009 Oct 30;24(14):2042-58. doi: 10.1002/mds.22675. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19735092?dopt=Abstract)
  • Lewthwaite AJ, Nicholl DJ. Genetics of parkinsonism. Curr Neurol Neurosci Rep. 2005 Sep;5(5):397-404. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16131423?dopt=Abstract)
  • Morris HR. Genetics of Parkinson's disease. Ann Med. 2005;37(2):86-96. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16026116?dopt=Abstract)
  • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat. 2010 Jul;31(7):763-80. doi: 10.1002/humu.21277. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20506312?dopt=Abstract)
  • Pankratz N, Foroud T. Genetics of Parkinson disease. NeuroRx. 2004 Apr;1(2):235-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15717024?dopt=Abstract)
  • Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet. 2004 May 29;363(9423):1783-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15172778?dopt=Abstract)
  • Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281. (http://www.ncbi.nlm.nih.gov/pubmed/19846850?dopt=Abstract)
  • 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/pubmed/15955578?dopt=Abstract)
  • Tan EK, Skipper LM. Pathogenic mutations in Parkinson disease. Hum Mutat. 2007 Jul;28(7):641-53. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17385668?dopt=Abstract)
  • 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/pubmed/12777365?dopt=Abstract)
  • 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/pubmed/15272270?dopt=Abstract)
  • 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/pubmed/15236834?dopt=Abstract)

 

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: May 2012
Published: September 15, 2014